ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1740T>G (p.Phe580Leu) (rs1553562483)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593871 SCV000706544 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000653548 SCV000775429 uncertain significance Bethlem myopathy 1 2017-11-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 580 of the COL6A3 protein (p.Phe580Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL6A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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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