ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.457dup (p.Asp153fs)

dbSNP: rs397515346
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003319 SCV000485145 pathogenic Alkaptonuria 2015-12-17 criteria provided, single submitter clinical testing
Invitae RCV000003319 SCV000937129 pathogenic Alkaptonuria 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp153Glyfs*26) 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). This variant is present in population databases (rs397515346, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with alkaptonuria (PMID: 9154114, 19862842). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3169). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000003319 SCV002810381 pathogenic Alkaptonuria 2021-12-17 criteria provided, single submitter clinical testing
OMIM RCV000003319 SCV000023477 pathogenic Alkaptonuria 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000003319 SCV000086745 not provided Alkaptonuria no assertion provided literature only 1 of 4 founder variants in the Slovak population
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000003319 SCV004098951 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:9154114. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00042).

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