ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2018G>T (p.Gly673Val)

dbSNP: rs1555634452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669722 SCV000794501 uncertain significance Niemann-Pick disease, type C1 2017-09-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586862 SCV005076689 uncertain significance not specified 2024-04-11 criteria provided, single submitter clinical testing Variant summary: NPC1 c.2018G>T (p.Gly673Val) results in a non-conservative amino acid change located in the Sterol-sensing domain (IPR000731) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251388 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2018G>T has been reported in the literature in individuals affected with Niemann-Pick Disease Type C (Garver_2010, Park_2003). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 19744920, 12955717). ClinVar contains an entry for this variant (Variation ID: 554148). Based on the evidence outlined above, the variant was classified as uncertain significance.

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