ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) (rs199605221)

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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 RCV000725878 SCV000340204 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000725878 SCV000516308 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing The E317A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E317A variant is observed in 108/125,634 (0.09%) alleles from individuals of European background (Lek et al., 2016). The E317A variant is also observed in the homozygous state in a clinically unaffected relative of an individual referred for genetic testing at GeneDx. The E317A 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 available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000764076 SCV000895031 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2018-10-31 criteria provided, single submitter clinical testing

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