ClinVar Miner

Submissions for variant NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) (rs143124972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169010 SCV000220151 likely pathogenic Niemann-Pick disease type C1 2014-03-07 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728524 SCV000856111 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781669 SCV000919892 pathogenic Niemann-Pick disease, type C 2017-12-29 criteria provided, single submitter clinical testing Variant summary: The NPC1 c.2819C>T (p.Ser940Leu) variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/244918 control chromosomes (gnomAD) at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPC1 variant (0.0027735). Multiple publications have cited the variant in affected homozygote and compound heterozygote individuals. In addition, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.

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