ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.441+1G>A (rs140130028)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153589 SCV000203128 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000153589 SCV000281338 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000259044 SCV000513950 uncertain significance not specified 2016-09-29 criteria provided, single submitter clinical testing The c.441+1G>A variant in the NPC2 gene has been reported previously in the heterozygous state with no second variant identified in patients with possible Niemann-Pick type C, Parkinson disease, and frontotemporal lobar degeneration, and has been classified as a variant of uncertain significance (Bauer et al., 2013; Zech et al., 2013). This splice site variant destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports c.441+1G>A was observed in 76/4406 (0.88%) alleles from individuals of European American background, indicating it may be a rare variant in this population. We interpret c.441+1G>A as a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000153589 SCV000698699 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000153589 SCV000892103 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000153589 SCV001014186 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000153589 SCV001135067 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela RCV000087100 SCV000119957 pathogenic Niemann-Pick disease type C2 no assertion criteria provided research
GenomeConnect, ClinGen RCV000087100 SCV000840300 not provided Niemann-Pick disease type C2 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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