ClinVar Miner

Submissions for variant NM_000433.3(NCF2):c.1081A>T (p.Thr361Ser) (rs147744729)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526618 SCV000641903 likely benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000526618 SCV001257653 benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2017-05-25 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000526618 SCV001468386 uncertain significance Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2020-05-21 criteria provided, single submitter clinical testing NCF2 NM_000433.3 exon 12 p.Thr361Ser (c.1081A>T): This variant has been reported in the literature in at least one individual with inflammatory bowel disease (Denson 2018 PMID:29454792). This variant is also present in 0.2% (333/128812) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-183532666-T-A) and is present in ClinVar (Variation ID:466297). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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