ClinVar Miner

Submissions for variant NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) (rs35012521)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000309636 SCV000331764 benign not specified 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000309636 SCV000515918 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000539456 SCV000641907 benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000539456 SCV001257371 likely benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Institute Rare Disease Group, Broad Institute RCV001258235 SCV001435141 benign Epileptic encephalopathy, early infantile, 28 criteria provided, single submitter research The homozygous p.Asn419Ile variant in NCF2 has been identified in a Tunisian individual with chronic granulomatous disease (PMID: 16937026), individuals without chronic granulomatous disease (PMID: 23821607), and has been identified in >1% of South Asian chromosomes and 6 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive chronic granulomatous disease.

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