ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) (rs147139414)

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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 RCV000385438 SCV000341984 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000525552 SCV000649628 uncertain significance Dysferlinopathy 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 783 of the DYSF protein (p.Ala783Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs147139414, ExAC 0.1%) but has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 288008). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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