ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)

gnomAD frequency: 0.00001  dbSNP: rs771654029
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001186234 SCV000319502 benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000389469 SCV000425501 benign Ehlers-Danlos syndrome, type 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000389469 SCV000831640 likely benign Ehlers-Danlos syndrome, type 4 2023-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186234 SCV001352602 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001564374 SCV001787531 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing Occurs in the triple helical domain at the {X} position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278235 SCV002565650 uncertain significance Ehlers-Danlos syndrome 2020-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001564374 SCV003916217 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing COL3A1: BP4

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