ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)

dbSNP: rs747843876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240170 SCV001208717 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 929 of the COL5A2 protein (p.Ala929Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. 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. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is not present in population databases (ExAC no frequency).

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