ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)

gnomAD frequency: 0.00005  dbSNP: rs369025432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040992 SCV001204586 likely benign Bethlem myopathy 1 2023-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811626 SCV001474258 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001811626 SCV003832519 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160269 SCV003907592 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.532G>A (p.E178K) alteration is located in exon 3 (coding exon 2) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 532, causing the glutamic acid (E) at amino acid position 178 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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