ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.1580A>C (p.Gln527Pro)

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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 RCV003078158 SCV003469900 uncertain significance Brugada syndrome 2022-02-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 493 of the SLMAP protein (p.Gln493Pro).
Ambry Genetics RCV004071843 SCV005025585 uncertain significance not specified 2024-10-04 criteria provided, single submitter clinical testing The c.1478A>C (p.Q493P) alteration is located in exon 15 (coding exon 15) of the SLMAP gene. This alteration results from a A to C substitution at nucleotide position 1478, causing the glutamine (Q) at amino acid position 493 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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