ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) (rs28942107)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790787 SCV000227757 pathogenic not provided 2012-07-02 criteria provided, single submitter clinical testing
Counsyl RCV000003106 SCV000487037 likely pathogenic Niemann-Pick disease type C1 2016-09-28 criteria provided, single submitter clinical testing
Invitae RCV000003106 SCV001233849 pathogenic Niemann-Pick disease type C1 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1035 of the NPC1 protein (p.Ala1035Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs28942107, ExAC 0.002%). This variant has been observed in individual(s) with Niemann-Pick disease type C (PMID: 11479732, 23183285, 16098014, Invitae). ClinVar contains an entry for this variant (Variation ID: 2972). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003106 SCV000023264 pathogenic Niemann-Pick disease type C1 2001-07-01 no assertion criteria provided literature only

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