ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.970dup (p.Val324fs)

dbSNP: rs34214309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409682 SCV000487180 likely pathogenic Alkaptonuria 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000409682 SCV002120961 pathogenic Alkaptonuria 2021-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371566). This premature translational stop signal has been observed in individual(s) with alkaptonuria (PMID: 25804398). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val324Glyfs*3) 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 RCV000409682 SCV004098956 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:19862842. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00139).

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