ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)

gnomAD frequency: 0.00003  dbSNP: rs374166613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091297 SCV002384036 likely benign Bethlem myopathy 1A 2021-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002993481 SCV003720701 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.2548C>T (p.H850Y) alteration is located in exon 28 (coding exon 27) of the COL6A2 gene. This alteration results from a C to T substitution at nucleotide position 2548, causing the histidine (H) at amino acid position 850 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025697 SCV005661508 uncertain significance Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 2024-04-02 criteria provided, single submitter clinical testing

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