ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.830G>A (p.Arg277Gln)

gnomAD frequency: 0.00004  dbSNP: rs756718350
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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 RCV001897791 SCV002153244 uncertain significance Brugada syndrome 2023-10-13 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 277 of the SLMAP protein (p.Arg277Gln). This variant is present in population databases (rs756718350, gnomAD 0.009%). 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: 1384717). 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 disruptive. 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 RCV004041337 SCV003982060 uncertain significance not specified 2024-04-26 criteria provided, single submitter clinical testing The p.R277Q variant (also known as c.830G>A), located in coding exon 9 of the SLMAP gene, results from a G to A substitution at nucleotide position 830. The arginine at codon 277 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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