ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)

dbSNP: rs1181604094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672250 SCV000797341 uncertain significance Niemann-Pick disease, type C1 2018-03-24 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000672250 SCV003841947 uncertain significance Niemann-Pick disease, type C1 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.85; 3Cnet: 0.92). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NPC1 related disorder (PMID: 26981555). 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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