ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)

dbSNP: rs1060500323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469747 SCV000542115 likely pathogenic Neurofibromatosis, type 1 2023-10-30 criteria provided, single submitter clinical testing This variant, c.758_760del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Val253del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 404528). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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