ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) (rs7227375)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658414 SCV000780186 likely pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The N701K variant has been reported in a patient with Niemann-Pick disease, type C who also had a second pathogenic variant in the NPC1 gene (Cologna et al. 2012). The N701K variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we interpret this variant as likely pathogenic.

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