ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.1904G>A (p.Arg635Gln)

gnomAD frequency: 0.00006  dbSNP: rs139032332
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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 RCV001950520 SCV002226381 uncertain significance Brugada syndrome 2024-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 601 of the SLMAP protein (p.Arg601Gln). This variant is present in population databases (rs139032332, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1440935). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004043128 SCV002714798 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing The p.R601Q variant (also known as c.1802G>A), located in coding exon 17 of the SLMAP gene, results from a G to A substitution at nucleotide position 1802. The arginine at codon 601 is replaced by glutamine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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