ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.360T>G (p.Cys120Trp)

dbSNP: rs149165166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055782 SCV000220739 pathogenic Alkaptonuria 2014-09-29 criteria provided, single submitter literature only
Invitae RCV000055782 SCV000963995 pathogenic Alkaptonuria 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 120 of the HGD protein (p.Cys120Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with alkaptonuria (PMID: 12114497, 19862842). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 65578). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000055782 SCV002805389 pathogenic Alkaptonuria 2022-04-24 criteria provided, single submitter clinical testing
GeneReviews RCV000055782 SCV000086744 not provided Alkaptonuria no assertion provided literature only Founder variant in the Dominican Republic
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000055782 SCV004101016 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:12114497. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00029).

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