ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.847C>A (p.Gln283Lys)

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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 RCV002589865 SCV002956018 uncertain significance not provided 2022-05-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DYM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 283 of the DYM protein (p.Gln283Lys).
Ambry Genetics RCV004973482 SCV005576490 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.847C>A (p.Q283K) alteration is located in exon 9 (coding exon 8) of the DYM gene. This alteration results from a C to A substitution at nucleotide position 847, causing the glutamine (Q) at amino acid position 283 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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