ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser) (rs766512164)

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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 RCV000725599 SCV000338061 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000725599 SCV000680886 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in an alternative transcript of the DYSF gene. The G1474S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 6/16338 (0.04%) alleles from individuals of African background in large populationcohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support thatthis variant does not alter protein structure/function. However, the G1474S 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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