ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1480G>A (p.Val494Met)

gnomAD frequency: 0.00021  dbSNP: rs199812609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585049 SCV000692932 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000585049 SCV000860192 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000809719 SCV000949890 uncertain significance Niemann-Pick disease, type C1 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 494 of the NPC1 protein (p.Val494Met). This variant is present in population databases (rs199812609, gnomAD 0.03%). This missense change has been observed in individual(s) with low high-density lipoprotein cholesterol level (PMID: 23685560). ClinVar contains an entry for this variant (Variation ID: 493233). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPC1 protein function. 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.
Natera, Inc. RCV000809719 SCV002095207 uncertain significance Niemann-Pick disease, type C1 2020-02-11 no assertion criteria provided clinical testing

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