ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.848+1G>A

dbSNP: rs777071414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656486 SCV000778460 pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing The c.848+1 G>A variant in the FARSB gene has been observed in internal GeneDx clinical exome sequencing data in association with lung disease and pneumothoraces, cirrhosis, intracranial aneurysms and calcifications, hypotonia, and connective tissue disease. This splice site variant destroys the canonical splice donor site in intron 9. It is predicted to cause abnormal gene splicing, leading to an abnormal message that is subject to nonsense-mediated mRNA decay. The c.848+1 G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, we interpret c.848+1 G>A as a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002499132 SCV002805302 likely pathogenic Rajab interstitial lung disease with brain calcifications 1 2021-08-20 criteria provided, single submitter clinical testing
OMIM RCV000754845 SCV000882725 pathogenic Rajab interstitial lung disease with brain calcifications 2020-09-08 no assertion criteria provided literature only

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