ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6525C>T (p.Val2175=)

dbSNP: rs761686171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392219 SCV001593860 likely benign Neurofibromatosis, type 1 2024-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557588 SCV005048636 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-30 criteria provided, single submitter clinical testing The c.6462C>T variant (also known as p.V2154V), located in coding exon 42 of the NF1 gene, results from a C to T substitution at nucleotide position 6462. This nucleotide substitution does not change the valine at codon 2154. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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