ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)

gnomAD frequency: 0.00002  dbSNP: rs143370662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169039 SCV000220197 likely pathogenic Alkaptonuria 2014-03-26 criteria provided, single submitter literature only
GeneDx RCV003225036 SCV003921467 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing Normal stop codon changed to an Arginine codon, leading to the addition of 24 amino acids at the C-terminus; This variant is associated with the following publications: (PMID: 30487145, 19862842)
Fulgent Genetics, Fulgent Genetics RCV000169039 SCV005658823 likely pathogenic Alkaptonuria 2024-05-30 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000169039 SCV004046744 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in PMID:19862842. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00104).

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