ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)

dbSNP: rs1574725167
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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 RCV000798311 SCV000937919 uncertain significance Bethlem myopathy 1A 2021-03-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with COL6A3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 579 of the COL6A3 protein (p.Ala579Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.
GenomeConnect - Invitae Patient Insights Network RCV001535502 SCV001749455 not provided Bethlem myopathy 1A; Collagen 6-related myopathy; Dystonia 27 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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