ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.544G>A (p.Asp182Asn)

gnomAD frequency: 0.00014  dbSNP: rs201021988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597184 SCV000709059 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001035892 SCV001199232 uncertain significance Niemann-Pick disease, type C1 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 182 of the NPC1 protein (p.Asp182Asn). This variant is present in population databases (rs201021988, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 502363). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPC1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001035892 SCV001459994 uncertain significance Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748852 SCV005343962 uncertain significance NPC1-related disorder 2024-05-20 no assertion criteria provided clinical testing The NPC1 c.544G>A variant is predicted to result in the amino acid substitution p.Asp182Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.052% of alleles in individuals of African descent in gnomAD. This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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