ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.941T>G (p.Ile314Ser)

dbSNP: rs779312973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314451 SCV001504985 uncertain significance Brugada syndrome 2020-01-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 314 of the SLMAP protein (p.Ile314Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine. This variant is present in population databases (rs779312973, ExAC 0.006%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with SLMAP-related conditions.
Ambry Genetics RCV004034316 SCV004001117 uncertain significance not specified 2023-06-14 criteria provided, single submitter clinical testing The p.I314S variant (also known as c.941T>G), located in coding exon 9 of the SLMAP gene, results from a T to G substitution at nucleotide position 941. The isoleucine at codon 314 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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