ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)

dbSNP: rs876658642
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458889 SCV000542036 benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570439 SCV000666573 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing The p.V437A variant (also known as c.1310T>C), located in coding exon 12 of the NF1 gene, results from a T to C substitution at nucleotide position 1310. The valine at codon 437 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 110000alleles tested) in our clinical cohort.This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of p.V437A remains unclear.
GeneDx RCV001775800 SCV002012808 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000458889 SCV002561891 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559063 SCV005047368 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV004567948 SCV005052307 uncertain significance Juvenile myelomonocytic leukemia 2023-12-07 criteria provided, single submitter clinical testing

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