ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)

gnomAD frequency: 0.00003  dbSNP: rs781117606
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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 RCV001890029 SCV002145988 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-06-26 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. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs781117606, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 470 of the ACD protein (p.Pro470Leu).
Ambry Genetics RCV002388750 SCV002698937 uncertain significance Inborn genetic diseases 2023-07-27 criteria provided, single submitter clinical testing The p.P470L variant (also known as c.1409C>T), located in coding exon 10 of the ACD gene, results from a C to T substitution at nucleotide position 1409. The proline at codon 470 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.

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