ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) (rs121918619)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442150 SCV000518163 uncertain significance not provided 2018-10-31 criteria provided, single submitter clinical testing The R65W variant in the ATP1A2 gene has been reported previously in three siblings with familial hemiplegic migraine (FHM), and was not present in another sibling who suffered from typical migraines without aura (Tonelli et al., 2007). The R65W variant is observed in 14/126278 (0.01%) alleles from individuals of European background (Lek et al., 2016). The R65W 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
OMIM RCV000013792 SCV000034039 pathogenic Familial hemiplegic migraine type 2 2007-12-01 no assertion criteria provided literature only

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