ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)

gnomAD frequency: 0.00003  dbSNP: rs786205870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699713 SCV000828436 likely benign Bethlem myopathy 1A 2024-01-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198487 SCV001369434 uncertain significance Ullrich congenital muscular dystrophy 1A 2019-06-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM5,PP3.
MGZ Medical Genetics Center RCV000699713 SCV002579548 uncertain significance Bethlem myopathy 1A 2022-08-19 criteria provided, single submitter clinical testing
GeneDx RCV004719736 SCV005325339 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing Observed in a patient with isolated dystonia in published literature; however, the variant was also seen with a pathogenic variant in the affected patient while the patient's unaffected relatives were heterozygous for p.A2554T only (PMID: 26004199); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26004199)
OMIM RCV000172848 SCV000223817 pathogenic Dystonia 27 2015-06-04 no assertion criteria provided literature only

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