ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.518T>C (p.Leu173Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003236750 SCV003935137 uncertain significance Alkaptonuria 2023-06-24 criteria provided, single submitter clinical testing The novel heterozygous variant c.518T>C (p.Leu173Pro) has been identified in compound heterozygous state with c.347T>C (p.Leu116Pro) in a proband with alkaptonuria. This variant has not been found in gnomAD aggregate or ExAc (PM2_Moderate). This variant in exon 8 is in a mutational hotspot region (PM1_supporting) and in a gene with 72 pathogenic missense variants (PP2_supporting).

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