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NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala) AND Neuronal ceroid lipofuscinosis 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001363246.4

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala)]

NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala)

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.1291C>G (p.Pro431Ala)
HGVS:
  • NC_000004.12:g.127921583G>C
  • NG_008657.1:g.49402C>G
  • NM_001363520.3:c.1090C>G
  • NM_001363521.3:c.976C>G
  • NM_001371590.2:c.1156C>G
  • NM_001371591.2:c.1291C>G
  • NM_001371592.2:c.1297C>G
  • NM_001371593.2:c.1177C>G
  • NM_001371594.2:c.1144C>G
  • NM_001371595.1:c.1009C>G
  • NM_001371596.2:c.1291C>GMANE SELECT
  • NM_001410765.1:c.841C>G
  • NM_001410766.1:c.*176C>G
  • NM_152778.4:c.1291C>G
  • NP_001350449.1:p.Pro364Ala
  • NP_001350449.1:p.Pro364Ala
  • NP_001350450.1:p.Pro326Ala
  • NP_001350450.1:p.Pro326Ala
  • NP_001358519.1:p.Pro386Ala
  • NP_001358519.1:p.Pro386Ala
  • NP_001358520.1:p.Pro431Ala
  • NP_001358520.1:p.Pro431Ala
  • NP_001358521.1:p.Pro433Ala
  • NP_001358521.1:p.Pro433Ala
  • NP_001358522.1:p.Pro393Ala
  • NP_001358522.1:p.Pro393Ala
  • NP_001358523.1:p.Pro382Ala
  • NP_001358523.1:p.Pro382Ala
  • NP_001358524.1:p.Pro337Ala
  • NP_001358525.1:p.Pro431Ala
  • NP_001397694.1:p.Pro281Ala
  • NP_689991.1:p.Pro431Ala
  • LRG_833t1:c.1291C>G
  • LRG_833t2:c.1291C>G
  • LRG_833:g.49402C>G
  • LRG_833p1:p.Pro431Ala
  • LRG_833p2:p.Pro431Ala
  • NC_000004.11:g.128842738G>C
  • NM_001363520.2:c.1090C>G
  • NM_001363521.2:c.976C>G
  • NM_001371590.1:c.1156C>G
  • NM_001371591.1:c.1291C>G
  • NM_001371592.1:c.1297C>G
  • NM_001371593.1:c.1177C>G
  • NM_001371594.1:c.1144C>G
Protein change:
P281A
Links:
dbSNP: rs2148839575
NCBI 1000 Genomes Browser:
rs2148839575
Molecular consequence:
  • NM_001363520.3:c.1090C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.3:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371590.2:c.1156C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.1291C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.1297C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.2:c.1177C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.1144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.1009C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.1291C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410765.1:c.841C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.1291C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 7 (CLN7)
Synonyms:
MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0012588; MedGen: C1838571; Orphanet: 168491; Orphanet: 228366; OMIM: 610951

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001559350Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 27, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001559350.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces proline with alanine at codon 431 of the MFSD8 protein (p.Pro431Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024