NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 16, 2014
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:: RCV000197098.2

Allele description [Variation Report for NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg)]

NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg)

Gene:

SLC19A3:solute carrier family 19 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg)

HGVS:

NC_000002.12:g.227687556G>C
NG_016359.1:g.35474C>G
NM_025243.4:c.1332C>GMANE SELECT
NP_079519.1:p.Ser444Arg
NC_000002.11:g.228552272G>C
NM_025243.3:c.1332C>G
p.S444R

Protein change:

S444R

Links:

dbSNP: rs863224204

NCBI 1000 Genomes Browser:

rs863224204

Molecular consequence:

NM_025243.4:c.1332C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252268	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 16, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252268

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 16, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252268.11

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

Description

p.Ser444Arg (AGC>AGG): c.1332 C>G in exon 6 of the SLC19A3 gene (NM_025243.3) The S444R missense mutation in the SLC19A3 gene has been reported previously in a patient with early-infantile, lethal encephalopathy who was apparently homozygous for the S444R mutation (Kevelam et al., 2013). S444R is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts that S444R is probably damaging to the protein structure/function. Therefore, we interpret S444R to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s).

#	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

Last Updated: Apr 23, 2022

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