ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) (rs1555641909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666286 SCV000790552 uncertain significance Niemann-Pick disease type C1 2017-03-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825408 SCV000966706 uncertain significance not specified 2019-02-11 criteria provided, single submitter clinical testing The p.Phe68del variant in NPC1 has not been previously reported in individuals with Niemann-Pick disease, type C and was absent from large population studies. This variant is a deletion of a moderately conserved amino acid at position 68 and is not predicted to alter the protein reading frame. It is unclear if the deletion will impact protein function. In summary, the clinical significance of the p.Phe68del variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4_Supporting.

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