NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: May 4, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001721127.13

Allele description [Variation Report for NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)]

NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)

Gene:

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

Preferred name:

NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)

Other names:

p.Gly197Asp

HGVS:

NC_000004.12:g.127939961C>T
NG_008657.1:g.31024G>A
NM_001363520.3:c.553+2084G>A
NM_001363521.3:c.439+3791G>A
NM_001371590.2:c.455G>A
NM_001371591.2:c.590G>A
NM_001371592.2:c.596G>A
NM_001371593.2:c.476G>A
NM_001371594.2:c.554-1125G>A
NM_001371595.1:c.419-1125G>A
NM_001371596.2:c.590G>AMANE SELECT
NM_001410765.1:c.304+3791G>A
NM_001410766.1:c.476G>A
NM_152778.4:c.590G>A
NP_001358519.1:p.Gly152Asp
NP_001358520.1:p.Gly197Asp
NP_001358521.1:p.Gly199Asp
NP_001358522.1:p.Gly159Asp
NP_001358525.1:p.Gly197Asp
NP_001397695.1:p.Gly159Asp
NP_689991.1:p.Gly197Asp
NP_689991.1:p.Gly197Asp
LRG_833t1:c.590G>A
LRG_833t2:c.590G>A
LRG_833:g.31024G>A
LRG_833p1:p.Gly197Asp
LRG_833p2:p.Gly197Asp
NC_000004.11:g.128861116C>T
NM_152778.2:c.590G>A
NM_152778.3:c.590G>A

Protein change:

G152D

Links:

dbSNP: rs28544073

NCBI 1000 Genomes Browser:

rs28544073

Molecular consequence:

NM_001363520.3:c.553+2084G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001363521.3:c.439+3791G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001371594.2:c.554-1125G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001371595.1:c.419-1125G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001410765.1:c.304+3791G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001371590.2:c.455G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.476G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371596.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410766.1:c.476G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000513609	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 28, 2020)	germline	clinical testing	Citation Link,
SCV004227026	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 4, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34828358, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000513609

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 28, 2020)

germline

clinical testing

Citation Link,

SCV004227026

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 4, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

La Cognata V, Cavallaro S.

Genes (Basel). 2021 Oct 30;12(11). doi: 10.3390/genes12111750.

PubMed [citation]

PMID:: 34828358
PMCID:: PMC8617937

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000513609.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227026.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

Description

BS1, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Jul 5, 2025

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