ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7907+5G>T (rs1567627286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680833 SCV000808281 likely pathogenic not provided 2018-06-21 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NF1 gene. The c.7907+5G>T splice site variant has been previously reported in an individual with a clinical diagnosis of NF1 (Pasmany et al, 2015). This variant destroys the natural splice donor site in intron 53, and is expected to cause abnormal gene splicing. The c.7907+5G>T variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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