ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) (rs763385120)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189486 SCV000243129 uncertain significance not provided 2014-03-13 criteria provided, single submitter clinical testing p.Val205Val (V205V): c.615 T>A NM_001130438.2 The c.615 T>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico models predict that the c.615 T>A variant could potentially create a cryptic donor site that may supplant the natural site. However, no splice mutations have been reported in the SPTAN1 gene to our knowledge, and in the absence of RNA/functional studies, the actual effect of the c.615 T>A sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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