ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln)

gnomAD frequency: 0.00003  dbSNP: rs142516364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638677 SCV000760216 uncertain significance Brugada syndrome 2024-11-21 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 136 of the SLMAP protein (p.Arg136Gln). This variant is present in population databases (rs142516364, gnomAD 0.006%). 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: 532076). 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 RCV004025521 SCV002626500 uncertain significance not specified 2024-10-08 criteria provided, single submitter clinical testing The p.R136Q variant (also known as c.407G>A), located in coding exon 3 of the SLMAP gene, results from a G to A substitution at nucleotide position 407. The arginine at codon 136 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.
Revvity Omics, Revvity RCV003488749 SCV004237595 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing

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