ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.532C>T (p.Arg178Trp)

gnomAD frequency: 0.00001  dbSNP: rs766644866
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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 RCV001348037 SCV001542323 uncertain significance Brugada syndrome 2020-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 178 of the SLMAP protein (p.Arg178Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLMAP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV004867726 SCV005507467 uncertain significance not specified 2024-09-20 criteria provided, single submitter clinical testing The p.R178W variant (also known as c.532C>T), located in coding exon 6 of the SLMAP gene, results from a C to T substitution at nucleotide position 532. The arginine at codon 178 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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