ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)

dbSNP: rs1234099104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001171635 SCV001197997 likely pathogenic Niemann-Pick disease, type C1 2017-11-02 criteria provided, single submitter clinical testing
3billion RCV001171635 SCV005906094 uncertain significance Niemann-Pick disease, type C1 2023-12-07 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.92 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.96 (>=0.6, sensitivity 0.72 and precision 0.9)]. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NPC1-related disorder (ClinVar ID: VCV000834088 /PMID: 35614200). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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