ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.652del

dbSNP: rs786204662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169458 SCV000220883 likely pathogenic Alkaptonuria 2014-11-13 criteria provided, single submitter literature only
Invitae RCV000169458 SCV002247062 pathogenic Alkaptonuria 2022-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 189061). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of alkaptonuria (PMID: 16085442). This variant is present in population databases (rs786204662, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ala218Profs*11) in the HGD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGD are known to be pathogenic (PMID: 12501223, 19862842).
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000169458 SCV004046750 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in PMID:11001939. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00069).

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