ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6287_6290del (p.Ser2096fs) (rs1064795492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481849 SCV000571350 likely pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing The c.6287_6290delCCCT variant in the NF1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge.The deletion causes a frameshift, which changes a Serine to a Leucine at codon 2096, and creates a premature stop codon at position 32 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The c.6287_6290delCCCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on the currently available evidence, we consider c.6287_6290delCCCT to be a strong candidate for a pathogenic variant, which may be related to the developmental delay reported. However, the possibility it may be a rare benign variant cannot be excluded.

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