ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) (rs886041356)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000362623 SCV000329871 pathogenic not provided 2016-01-28 criteria provided, single submitter clinical testing The c.3613dupA variant in the NPC1 gene has been reported previously in the homozygous state in an Italian patient with severe infantile Niemann-Pick disease, whose clinical features at age 1 included hepatosplenomegaly and hypotonia (Fancello et al., 2009). The c.3613dupA variant causes a frameshift starting with codon Threonine 1205, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Thr1205AsnfsX53. This variant is predicted to cause loss of normal protein function through protein truncation. The c.3613dupA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3613dupA as a pathogenic variant.

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