ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) (rs1555637232)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649024 SCV000770845 uncertain significance Niemann-Pick disease type C1 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 357 of the NPC1 protein (p.Ser357Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another NPC1 variant in individuals affected with Niemann-Pick Disease Type C (PMID: 27928380, 27256227, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Counsyl RCV000649024 SCV000793726 likely pathogenic Niemann-Pick disease type C1 2017-08-29 criteria provided, single submitter clinical testing

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