ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.1798G>A (p.Glu600Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004060480 SCV002712755 uncertain significance not specified 2022-07-23 criteria provided, single submitter clinical testing The p.E566K variant (also known as c.1696G>A), located in coding exon 17 of the SLMAP gene, results from a G to A substitution at nucleotide position 1696. The glutamic acid at codon 566 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005058674 SCV005702163 uncertain significance Brugada syndrome 2024-06-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 566 of the SLMAP protein (p.Glu566Lys). This variant is present in population databases (rs753780730, gnomAD 0.002%). 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: 1778234). 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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