ClinVar Miner

Submissions for variant NM_000315.4(PTH):c.247C>T (p.Arg83Ter)

dbSNP: rs6256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV002221476 SCV002499417 likely pathogenic Familial hypoparathyroidism 2022-04-10 criteria provided, single submitter clinical testing The c.247C>T;p.(Arg83*) variant creates a premature translational stop signal in the PTH gene without sufficient information about prediction of nonsense mediated mRNA decay (NMD) type change; it is present in a relevant exon to the transcript, and disrupts >10% of the protein product - PVS1_strong. This sequence change has been observed in affected individual(s) (PMID: 18784115; 1425431) - PS4_supporting. The variant is present at low allele frequencies population databases (rs6256 – gnomAD 0.00003978%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.
OMIM RCV000014767 SCV000035022 pathogenic Primary hyperparathyroidism 2008-09-11 no assertion criteria provided literature only

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