ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.644C>T (p.Thr215Met)

gnomAD frequency: 0.00001  dbSNP: rs72547495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697129 SCV000825723 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 301 of the ACD protein (p.Thr301Met). This variant is present in population databases (rs72547495, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 575039). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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