ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1405G>A (p.Glu469Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV004699147 SCV005200503 likely pathogenic Brachydactyly type E1 2024-09-02 criteria provided, single submitter case-control The Glu469Lys variant in PTH1R is highly conserved in mammals, absent from gnomAD v4, segregates in a large family, and is predicted to be high impact. Variants in this gene have already been associated with similar phenotypes. Functional studies in HEK-293 cells and mice showed the variant to be moderately LOF. For these reasons, we have classified the variant as likely pathogenic.

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