ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2271G>A (p.Thr757=)

gnomAD frequency: 0.00003  dbSNP: rs202094576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186797 SCV000240366 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing p.Thr757Thr (T757T) ACG>ACA: c.2271 G>A in exon 16 of the ATP1A2 gene (NM_000702.3). The c.2271 G>A nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Multiple in-silico algorithms predict that the c.2271 G>A substitution could potentially create a new cryptic acceptor site that may supplant the natural site in exon 16 and lead to abnormal splicing. However, in the absence of RNA/functional and clinical studies, the actual effect of the c.2271 G>A sequence change is unknown. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001857603 SCV002194195 likely benign Familial hemiplegic migraine 2025-01-08 criteria provided, single submitter clinical testing

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