ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)

gnomAD frequency: 0.00001  dbSNP: rs372897632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002229655 SCV000284817 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315684 SCV000738427 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-03-16 criteria provided, single submitter clinical testing The p.A1305T variant (also known as c.3913G>A), located in coding exon 51 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3913. The alanine at codon 1305 is replaced by threonine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs372897632. Based on data from ExAC, the A allele has an overall frequency of approximately 0.004% (5/121352). The highest observed frequency was 0.02% (2/10400) of African alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed March 15, 2016]). Based on data from the NHLBI Exome Sequencing Project (ESP), the A 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, and threonine is the reference amino acid in other 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.
GeneDx RCV002272186 SCV002558574 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in a patient with bleeding issue, hypermobility, and at least one first degree family member with bleeding diathesis (Fager et al., 2020).; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 237776); This variant is associated with the following publications: (PMID: 33161638)

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