ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2308_2310del (p.Lys770del) (rs1554746442)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598618 SCV000710602 likely pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing The c.2308_2310delAAG variant in the SPTAN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2308_2310delAAG variant causes an in-frame deletion of a Lysine reside at codon 770, denoted p.K770del. The c.2308_2310delAAG variant is not observed in large population cohorts (Lek et al., 2016). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. We interpret c.2308_2310delAAG as a likely pathogenic variant.

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