ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)

gnomAD frequency: 0.00006  dbSNP: rs752896980
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671931 SCV000796968 uncertain significance Niemann-Pick disease, type C1 2018-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728695 SCV000856300 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671931 SCV000896691 uncertain significance Niemann-Pick disease, type C1 2022-02-14 criteria provided, single submitter clinical testing
Invitae RCV000671931 SCV002175663 uncertain significance Niemann-Pick disease, type C1 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3 of the NPC1 protein (p.Ala3Thr). This variant is present in population databases (rs752896980, gnomAD 0.008%). This missense change has been observed in individual(s) with Niemann-Pick Type C (PMID: 32931663). ClinVar contains an entry for this variant (Variation ID: 555997). 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. RCV000671931 SCV001467678 uncertain significance Niemann-Pick disease, type C1 2020-04-03 no assertion criteria provided clinical testing

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