ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3G>T (p.Met1Ile) (rs1555581729)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671694 SCV000796695 likely pathogenic Fanconi anemia, complementation group A 2017-12-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000671694 SCV000915739 uncertain significance Fanconi anemia, complementation group A 2018-10-25 criteria provided, single submitter clinical testing The FANCA c.3G>T (p.Met1?) variant is a start-loss variant predicted to disrupt the initiator codon, and thus potentially may interfere with protein expression. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Due to the potential impact on protein expression and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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