ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)

dbSNP: rs140109751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311147 SCV000320246 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-09-30 criteria provided, single submitter clinical testing The p.A1470V variant (also known as c.4409C>T), located in coding exon 54 of the COL5A2 gene, results from a C to T substitution at nucleotide position 4409. The alanine at codon 1470 is replaced by valine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs140109751. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659490 SCV000781306 likely benign Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing

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