ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.691A>G (p.Met231Val)

gnomAD frequency: 0.00001  dbSNP: rs1353904110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001145908 SCV001306617 uncertain significance Metaphyseal chondrodysplasia, Jansen type 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001145909 SCV001306618 uncertain significance Chondrodysplasia Blomstrand type 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002505721 SCV002796338 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003769701 SCV004632287 uncertain significance not provided 2023-06-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 900573). 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. 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 methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 231 of the PTH1R protein (p.Met231Val).

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