ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)

gnomAD frequency: 0.00006  dbSNP: rs767499336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598246 SCV000707470 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806334 SCV000946326 benign Bethlem myopathy 1A 2024-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531079 SCV003740915 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.550G>A (p.A184T) alteration is located in exon 3 (coding exon 2) of the COL6A3 gene. This alteration results from a G to A substitution at nucleotide position 550, causing the alanine (A) at amino acid position 184 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004737871 SCV005364246 uncertain significance COL6A3-related disorder 2024-04-03 no assertion criteria provided clinical testing The COL6A3 c.550G>A variant is predicted to result in the amino acid substitution p.Ala184Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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