ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly)

dbSNP: rs1575526869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044644 SCV002108093 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PTH1R protein function. ClinVar contains an entry for this variant (Variation ID: 1351330). This variant has not been reported in the literature in individuals affected with PTH1R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 511 of the PTH1R protein (p.Arg511Gly).
Fulgent Genetics, Fulgent Genetics RCV002478107 SCV002787697 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-10-20 criteria provided, single submitter clinical testing

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