ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)

dbSNP: rs538602187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230788 SCV000547881 benign Ehlers-Danlos syndrome, classic type, 1 2023-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168797 SCV003912713 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-17 criteria provided, single submitter clinical testing The p.P341S variant (also known as c.1021C>T), located in coding exon 16 of the COL5A2 gene, results from a C to T substitution at nucleotide position 1021. The proline at codon 341 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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 alteration remains unclear.

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