ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)

gnomAD frequency: 0.00009  dbSNP: rs763246328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198467 SCV000249797 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing Identified in a patient with classic Ehlers-Danlos syndrome (cEDS) who also harbored a variant in the COL6A3 gene (PMID: 35723357); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (PMID: 22696272, HGMD); This variant is associated with the following publications: (PMID: 35723357, 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229041 SCV000548972 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399719 SCV002712492 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-24 criteria provided, single submitter clinical testing The p.P576S variant (also known as c.1726C>T), located in coding exon 15 of the COL5A1 gene, results from a C to T substitution at nucleotide position 1726. The proline at codon 576 is replaced by serine, an amino acid with similar properties. This variant was reported in an individual with classic Ehlers-Danlos syndrome (Junkiert-Czarnecka A et al. Curr Issues Mol Biol. 2022 Mar;44(4):1472-1478). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000198467 SCV004225169 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing BS1

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