ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) (rs766488017)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000353475 SCV000339485 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625838 SCV000746404 likely pathogenic Bethlem myopathy 1 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000625838 SCV000828666 uncertain significance Bethlem myopathy 1 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 1374 of the COL6A3 protein (p.Asp1374Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs766488017, ExAC 0.02%). This variant has been observed in an individual affected with limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 286160). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
GeneDx RCV000353475 SCV001756522 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in heterozygous state in an individual with isolated dystonia (Zech et al., 2015); also reported in an individual with clinically suspected LGMD (Nallamilli et al., 2018); This variant is associated with the following publications: (PMID: 30564623, 26004199)

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