ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)

dbSNP: rs2145370569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807957 SCV002058277 pathogenic Niemann-Pick disease, type C1 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Patient’s phenotype is considered compatible with NPC1-related disorder (PP4_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Ambry Genetics RCV002541460 SCV003611712 pathogenic Inborn genetic diseases 2022-04-27 criteria provided, single submitter clinical testing The c.2847G>A (p.W949*) alteration, located in exon 19 (coding exon 19) of the NPC1 gene, consists of a G to A substitution at nucleotide position 2847. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 949. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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