ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC

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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 RCV002882201 SCV003243053 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-07-19 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2037408). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. This sequence change falls in intron 65 of the COL5A1 gene. It does not directly change the encoded amino acid sequence of the COL5A1 protein.

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