ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)

gnomAD frequency: 0.00001  dbSNP: rs768663426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002232905 SCV000829367 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-09-25 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 577774). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This variant is present in population databases (rs768663426, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1057 of the COL5A2 protein (p.Thr1057Ala).
GeneDx RCV001759394 SCV001987176 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279493 SCV002565826 uncertain significance Ehlers-Danlos syndrome 2018-12-01 criteria provided, single submitter clinical testing

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