ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) (rs1555631998)

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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 RCV000727481 SCV000708945 likely pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000597778 SCV001424466 pathogenic Niemann-Pick disease type C1 criteria provided, single submitter clinical testing
Invitae RCV000597778 SCV001492305 uncertain significance Niemann-Pick disease type C1 2020-03-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1168 of the NPC1 protein (p.Cys1168Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Niemann-Pick disease type C (PMID: 11333381, 26666848). ClinVar contains an entry for this variant (Variation ID: 502274). This variant has been reported to affect NPC1 protein function (PMID: 30923329). 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 RCV000597778 SCV000796541 likely pathogenic Niemann-Pick disease type C1 2017-12-27 no assertion criteria provided clinical testing

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