ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)

gnomAD frequency: 0.00001  dbSNP: rs778385867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233968 SCV000755944 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 451 of the COL5A2 protein (p.Ser451Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 529262). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL5A2 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001329848 SCV001521396 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2020-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003117443 SCV003798893 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323649 SCV004028646 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing

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