ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)

dbSNP: rs1940645842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067792 SCV001232872 likely pathogenic Alkaptonuria 2023-03-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 HGD protein function. ClinVar contains an entry for this variant (Variation ID: 861290). This missense change has been observed in individual(s) with alkaptonuria (PMID: 33621656; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 372 of the HGD protein (p.Gly372Arg).
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001067792 SCV001364398 likely pathogenic Alkaptonuria 2020-03-03 criteria provided, single submitter clinical testing Severe damage of the musculoskeletal system
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001067792 SCV004100967 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:34504318 and PMID:33621656. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00234).

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