ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.2190G>A (p.Met730Ile)

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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 RCV002914240 SCV003259292 uncertain significance Brugada syndrome 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 696 of the SLMAP protein (p.Met696Ile). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).
Ambry Genetics RCV004857926 SCV005507472 uncertain significance not specified 2024-10-08 criteria provided, single submitter clinical testing The p.M696I variant (also known as c.2088G>A), located in coding exon 19 of the SLMAP gene, results from a G to A substitution at nucleotide position 2088. The methionine at codon 696 is replaced by isoleucine, 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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