ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4529_4543del (p.Leu1510_Asn1514del)

dbSNP: rs1555618846
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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 RCV000632340 SCV000753517 pathogenic Neurofibromatosis, type 1 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Leu1490Pro) have been determined to be pathogenic (PMID: 25541118, 26635368, 29914388). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 527466). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.4466_4480del, results in the deletion of 5 amino acid(s) of the NF1 protein (p.Leu1489_Asn1493del), but otherwise preserves the integrity of the reading frame.

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