ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.117+5G>C (rs1555526248)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658295 SCV000780066 likely pathogenic not provided 2018-05-17 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PAFAH1B1 gene. The c.117+5 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.117+5 G>C variant is not observed in large population cohorts (Lek et al., 2016). The c.117+5 G>C variant is an intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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