ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.700C>T (p.Pro234Ser)

gnomAD frequency: 0.00024  dbSNP: rs557483957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001124623 SCV001283604 uncertain significance Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001124624 SCV001283605 uncertain significance Multiple epiphyseal dysplasia type 1 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001300856 SCV001490006 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Mendelics RCV002249735 SCV002518154 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV001300856 SCV002558071 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing Reported as heterozygous in a patient with pseudoachondroplasia in the published literature (Jackson et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 24595329, 23562786, 30906833, 21922596)

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