ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)

gnomAD frequency: 0.00001  dbSNP: rs760978454
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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 RCV001296018 SCV001484972 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-03-27 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ACD-related conditions. This variant is present in population databases (rs760978454, ExAC 0.01%). This sequence change replaces serine with asparagine at codon 381 of the ACD protein (p.Ser381Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.
Ambry Genetics RCV002451653 SCV002613043 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The p.S381N variant (also known as c.1142G>A), located in coding exon 10 of the ACD gene, results from a G to A substitution at nucleotide position 1142. The serine at codon 381 is replaced by asparagine, 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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