ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.304G>A (p.Gly102Arg)

gnomAD frequency: 0.00006  dbSNP: rs752038684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566357 SCV001789860 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing
Invitae RCV001566357 SCV002968978 uncertain significance not provided 2023-06-25 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1201119). This variant has not been reported in the literature in individuals affected with AHDC1-related conditions. This variant is present in population databases (rs752038684, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 102 of the AHDC1 protein (p.Gly102Arg).

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