ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)

gnomAD frequency: 0.00014  dbSNP: rs150078051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217646 SCV001389495 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-06-11 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACD protein function. ClinVar contains an entry for this variant (Variation ID: 946723). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs150078051, gnomAD 0.05%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 531 of the ACD protein (p.Phe531Ser).

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