ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6303del (p.Tyr2102fs)

dbSNP: rs1597842936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002354933 SCV001187150 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-07-24 criteria provided, single submitter clinical testing The c.6240delC pathogenic mutation, located in coding exon 41 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 6240, causing a translational frameshift with a predicted alternate stop codon (p.Y2081Tfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
GeneDx RCV001548732 SCV001768699 pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge

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