ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)

gnomAD frequency: 0.00003  dbSNP: rs886039197
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311223 SCV000320598 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-12-24 criteria provided, single submitter clinical testing The p.A358V variant (also known as c.1073C>T), located in coding exon 17 of the COL5A2 gene, results from a C to T substitution at nucleotide position 1073. The alanine at codon 358 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001200440 SCV001371404 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001200440 SCV001805332 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar ID# 264579; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002518737 SCV003481500 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987479 SCV004804241 uncertain significance not specified 2024-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001200440 SCV005408961 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing BP4

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