ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)

gnomAD frequency: 0.00006  dbSNP: rs148548209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314227 SCV000738595 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-01-26 criteria provided, single submitter clinical testing The p.T264M variant (also known as c.791C>T), located in coding exon 6 of the COL5A1 gene, results from a C to T substitution at nucleotide position 791. The threonine at codon 264 is replaced by methionine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs148548209. Based on data from ExAC, the T allele has an overall frequency of approximately 0.002% (3/121238). The highest observed frequency was 0.009% (1/10382) of African alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed January 26, 2016]). 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 poorly 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 variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002232756 SCV001570691 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884667 SCV004701809 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL5A1: BS2
GeneDx RCV003884667 SCV005383537 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in a patient with spontaneous renal artery dissection and history of hyperflexibility and clubfoot in childhood with no other signs of Ehlers-Danlos syndrome (EDS) but with a reported family history of EDS hypermobility type in a daughter (PMID: 31891009); This variant is associated with the following publications: (PMID: 22696272, 31891009)

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