ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4073G>A (p.Arg1358Gln) (rs745656610)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251179 SCV000318487 uncertain significance Cardiovascular phenotype 2013-02-12 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000691 SCV001157729 uncertain significance not specified 2018-07-14 criteria provided, single submitter clinical testing The COL3A1 c.4073G>A; p.Arg1358Gln variant (rs745656610), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is reported as uncertain significance by one laboratory in ClinVar (Variation ID: 263557), and is found in the general population with an overall allele frequency of 0.0012% (3/245964 alleles) in the Genome Aggregation Database. The arginine at codon 1358 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: deleterious) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the c.4073G>A; p.Arg1358Gln variant is uncertain at this time.
Color RCV001181617 SCV001346799 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-12-04 criteria provided, single submitter clinical testing

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