ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)

gnomAD frequency: 0.00009  dbSNP: rs770793962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198034 SCV000249931 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002228863 SCV000549007 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680503 SCV000807887 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020355 SCV005032226 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-26 criteria provided, single submitter clinical testing The p.S428L variant (also known as c.1283C>T), located in coding exon 8 of the COL5A1 gene, results from a C to T substitution at nucleotide position 1283. The serine at codon 428 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in a whole exome sequencing cohort (Stranneheim H et al. Genome Med, 2021 Mar;13:40). This amino acid position is highly 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 alteration remains unclear.

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