ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)

gnomAD frequency: 0.00001  dbSNP: rs1370466465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820455 SCV002071359 uncertain significance not specified 2019-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449435 SCV002734523 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The p.P365L variant (also known as c.1094C>T), located in coding exon 10 of the ACD gene, results from a C to T substitution at nucleotide position 1094. The proline at codon 365 is replaced by leucine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003754924 SCV004511962 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-03-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1337441). 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. 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 365 of the ACD protein (p.Pro365Leu).

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