ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.211G>T (p.Asp71Tyr)

dbSNP: rs2093330967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221831 SCV001393894 uncertain significance Brugada syndrome 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 71 of the SLMAP protein (p.Asp71Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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