ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1221G>A (p.Ala407=)

gnomAD frequency: 0.01639  dbSNP: rs146206905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365826 SCV000439979 likely benign Alkaptonuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000365826 SCV001115883 benign Alkaptonuria 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710916 SCV005264234 likely benign not provided criteria provided, single submitter not provided
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000365826 SCV004101017 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:16085442, as a silent variant affecting splicing. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00103).

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