ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)

dbSNP: rs1597770431
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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 RCV000795568 SCV000935035 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-03-18 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. ClinVar contains an entry for this variant (Variation ID: 642162). This variant has not been reported in the literature in individuals affected with ACD-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 333 of the ACD protein (p.Gln333Lys).
Ambry Genetics RCV004027526 SCV005037441 uncertain significance Inborn genetic diseases 2024-01-14 criteria provided, single submitter clinical testing The p.Q333K variant (also known as c.997C>A), located in coding exon 8 of the ACD gene, results from a C to A substitution at nucleotide position 997. The glutamine at codon 333 is replaced by lysine, an amino acid with 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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