ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)

gnomAD frequency: 0.00019  dbSNP: rs191776973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728973 SCV000856602 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001862162 SCV002151121 uncertain significance Niemann-Pick disease, type C1 2022-10-30 criteria provided, single submitter clinical testing This sequence change affects codon 1197 of the NPC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPC1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs191776973, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593823). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003892610 SCV004708992 likely benign NPC1-related disorder 2021-06-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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