ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)

gnomAD frequency: 0.00001  dbSNP: rs747913250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365972 SCV001562258 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-12-24 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 not expected to disrupt ACD protein function. ClinVar contains an entry for this variant (Variation ID: 1057054). This variant has not been reported in the literature in individuals affected with ACD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 469 of the ACD protein (p.Arg469Trp).
Ambry Genetics RCV002395827 SCV002702466 likely benign Inborn genetic diseases 2021-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004692644 SCV005193442 uncertain significance not provided criteria provided, single submitter not provided

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