ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)

gnomAD frequency: 0.00001  dbSNP: rs199621926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231332 SCV000631601 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314959 SCV000738724 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-05 criteria provided, single submitter clinical testing The p.P1226S variant (also known as c.3676C>T), located in coding exon 51 of the COL5A2 gene, results from a C to T substitution at nucleotide position 3676. The proline at codon 1226 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.
Fulgent Genetics, Fulgent Genetics RCV002476116 SCV002782633 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2022-05-11 criteria provided, single submitter clinical testing
GeneDx RCV003317260 SCV004021613 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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