ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003234979 SCV003932873 likely pathogenic Niemann-Pick disease, type C1 2023-06-21 criteria provided, single submitter clinical testing This heterozygous variantc.3246T>A (p.Ser1082Arg) has been identified in a proband with persistent neonatal cholestatic jaundice in a compound heterozygous state with other variant c.1522G>A (p.Asp508Asn). The Lyso-SM-509 biomarker for Neimann Pick C is increased. This variant is present in exon 22 which is an exonic hotspot and 241 pathogenic mis-sense variants have been reported in this gene (PM1_Moderate & PP2_supporting). This variant is found in 0.0004% gnomAD (aggregated) (PM2_Moderate).

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