ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) (rs147701785)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594149 SCV000702166 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387185 SCV000428890 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000795594 SCV000935062 uncertain significance Bethlem myopathy 1 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 154 of the COL6A3 protein (p.Ser154Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs147701785, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 335145). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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