ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.440G>A (p.Arg147His)

gnomAD frequency: 0.00001  dbSNP: rs576428067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626203 SCV000746846 uncertain significance Primary failure of tooth eruption 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529781 SCV003506973 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 147 of the PTH1R protein (p.Arg147His). This variant is present in population databases (rs576428067, gnomAD 0.003%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 523004). This variant has not been reported in the literature in individuals affected with PTH1R-related conditions.

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