ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)

gnomAD frequency: 0.00001  dbSNP: rs201365474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211309 SCV001382841 likely benign Bethlem myopathy 1 2023-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562371 SCV003543663 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.1790T>G (p.L597W) alteration is located in exon 28 (coding exon 28) of the COL6A1 gene. This alteration results from a T to G substitution at nucleotide position 1790, causing the leucine (L) at amino acid position 597 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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