ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)

gnomAD frequency: 0.00086  dbSNP: rs112382430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521802 SCV001731209 benign not provided 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV001521802 SCV002000364 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276757 SCV002566975 uncertain significance Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908871 SCV004724182 likely benign PTH1R-related disorder 2020-07-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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