ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro)

gnomAD frequency: 0.00011  dbSNP: rs547682383
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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 RCV001993079 SCV002227857 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 250 of the PTH1R protein (p.Leu250Pro). This variant is present in population databases (rs547682383, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PTH1R-related conditions. ClinVar contains an entry for this variant (Variation ID: 1451055). 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 with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002492113 SCV002788549 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2022-02-03 criteria provided, single submitter clinical testing

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