ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)

gnomAD frequency: 0.00002  dbSNP: rs764367878
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469078 SCV000542169 likely benign Neurofibromatosis, type 1 2024-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000681013 SCV000808462 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002318995 SCV001172040 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-27 criteria provided, single submitter clinical testing The p.Y49N variant (also known as c.145T>A), located in coding exon 2 of the NF1 gene, results from a T to A substitution at nucleotide position 145. The tyrosine at codon 49 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000469078 SCV002561411 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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