ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.522G>A (p.Lys174=)

gnomAD frequency: 0.00003  dbSNP: rs554016354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539231 SCV001019323 likely benign Bethlem myopathy 1A 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530855 SCV004117675 uncertain significance COL6A2-related disorder 2022-08-25 criteria provided, single submitter clinical testing The COL6A2 c.522G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to possibly alter splicing based on available splicing prediction programs (Alamut Visual v2.11). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0089% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47532299-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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