ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.60G>A (p.Gln20=)

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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 RCV002360156 SCV002661054 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-09-30 criteria provided, single submitter clinical testing The c.60G>A variant (also known as p.Q20Q), located in coding exon 1 of the NF1 gene, results from a G to A substitution at nucleotide position 60. This nucleotide substitution does not change the at codon 20. However, this change occurs in the last base pair of coding exon 1, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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