ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) (rs140985224)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000723634 SCV000574387 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing Reported in a French proband with Kniest dysplasia, but was subsequently found to be inherited from an asymptomatic father (Barat-Houari et al., 2016c); Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat and may have an effect on normal protein folding and function, though missense substitution at the Y position is not a common mechanism of disease (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26626311)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723634 SCV000700590 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110199 SCV001267603 uncertain significance Stickler syndrome type 1 2017-04-27 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 Clinical Services Laboratory,Illumina RCV001110200 SCV001267604 benign Type II Collagenopathies 2017-04-27 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375461 SCV001572134 benign Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Moderate, PP3_Supporting, BS1_Strong, BS2_Strong
Invitae RCV000723634 SCV001693500 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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