ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)

gnomAD frequency: 0.00009  dbSNP: rs143389941
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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 RCV000696126 SCV000824674 likely benign Bethlem myopathy 1A 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026369 SCV004930200 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.5678C>T (p.T1893M) alteration is located in exon 12 (coding exon 11) of the COL6A3 gene. This alteration results from a C to T substitution at nucleotide position 5678, causing the threonine (T) at amino acid position 1893 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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