ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)

gnomAD frequency: 0.00004  dbSNP: rs368928992
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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 RCV001326405 SCV001517435 likely benign Bethlem myopathy 1A 2024-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546177 SCV003569013 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.4226C>T (p.T1409M) alteration is located in exon 9 (coding exon 8) of the COL6A3 gene. This alteration results from a C to T substitution at nucleotide position 4226, causing the threonine (T) at amino acid position 1409 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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