ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.928G>A (p.Ala310Thr)

dbSNP: rs754387957
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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 RCV000456776 SCV000552243 uncertain significance Brugada syndrome 2024-12-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 310 of the SLMAP protein (p.Ala310Thr). This variant is present in population databases (rs754387957, gnomAD 0.01%). 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: 411194). 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.

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