ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys)

gnomAD frequency: 0.00003  dbSNP: rs200667470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001358958 SCV001554815 uncertain significance not provided 2022-03-21 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. 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 C55"). ClinVar contains an entry for this variant (Variation ID: 1050981). This variant has not been reported in the literature in individuals affected with PTH1R-related conditions. This variant is present in population databases (rs200667470, gnomAD 0.2%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 549 of the PTH1R protein (p.Glu549Lys).
Fulgent Genetics, Fulgent Genetics RCV002504587 SCV002814611 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2021-08-19 criteria provided, single submitter clinical testing
3billion RCV004731135 SCV005328681 likely benign Chondrodysplasia Blomstrand type; Eiken syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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