ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.543+4C>T

gnomAD frequency: 0.00006  dbSNP: rs199829955
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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 RCV001351241 SCV001545692 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the PTH1R gene. It does not directly change the encoded amino acid sequence of the PTH1R protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199829955, gnomAD 0.02%). 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: 1046655). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002493809 SCV002781134 uncertain significance Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 2022-03-15 criteria provided, single submitter clinical testing

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