ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) (rs146970014)

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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 RCV000656846 SCV000229708 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000656846 SCV000564952 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYSF gene. The R1254W variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 47/23930 (0.20%) alleles from individuals of Africanbackground in large population cohorts (Lek et al., 2016). The R1254W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000177777 SCV000613203 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV000656846 SCV001018437 benign not provided 2019-01-28 criteria provided, single submitter clinical testing

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