ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7321+4A>G

dbSNP: rs1597858660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416299 SCV001188543 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-07-15 criteria provided, single submitter clinical testing The c.7258+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 48 in the NF1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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