ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.629C>T (p.Ala210Val)

gnomAD frequency: 0.00006  dbSNP: rs773638342
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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 RCV001953088 SCV002218135 uncertain significance not provided 2023-01-20 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: 1442623). This missense change has been observed in individual(s) with clinical features of PTH1R-related conditions (PMID: 35250876). This variant is present in population databases (rs773638342, gnomAD 0.1%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 210 of the PTH1R protein (p.Ala210Val).
Fulgent Genetics, Fulgent Genetics RCV002479539 SCV002786267 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2022-04-28 criteria provided, single submitter clinical testing

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