ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.723A>G (p.Ile241Met)

gnomAD frequency: 0.00001  dbSNP: rs760182153
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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 RCV001971941 SCV002199819 uncertain significance Brugada syndrome 2021-08-20 criteria provided, single submitter clinical testing 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 C0"). This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. This variant is present in population databases (rs760182153, ExAC 0.003%). This sequence change replaces isoleucine with methionine at codon 241 of the SLMAP protein (p.Ile241Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine.
Ambry Genetics RCV004671541 SCV005167092 uncertain significance not specified 2024-04-25 criteria provided, single submitter clinical testing The p.I241M variant (also known as c.723A>G), located in coding exon 8 of the SLMAP gene, results from an A to G substitution at nucleotide position 723. The isoleucine at codon 241 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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