ClinVar Miner

Submissions for variant NC_000016.10:g.67660262C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002432880 SCV002731473 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.217G>A (p.G73R) alteration is located in exon 1 (coding exon 1) of the ACD gene. This alteration results from a G to A substitution at nucleotide position 217, causing the glycine (G) at amino acid position 73 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003754980 SCV004519541 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-04-15 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1787247). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs558547634, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 73 of the ACD protein (p.Gly73Arg).

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