ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.1690G>A (p.Val564Ile)

gnomAD frequency: 0.00001  dbSNP: rs570222284
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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 RCV001945709 SCV002202652 uncertain significance Brugada syndrome 2023-05-30 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1422818). This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. This variant is present in population databases (rs570222284, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 530 of the SLMAP protein (p.Val530Ile).
Ambry Genetics RCV004044170 SCV003656088 uncertain significance not specified 2023-11-08 criteria provided, single submitter clinical testing The p.V530I variant (also known as c.1588G>A), located in coding exon 16 of the SLMAP gene, results from a G to A substitution at nucleotide position 1588. The valine at codon 530 is replaced by isoleucine, 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.

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