ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser)

gnomAD frequency: 0.00006  dbSNP: rs1003067844
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421975 SCV000536120 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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