ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)

gnomAD frequency: 0.00001  dbSNP: rs769843989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036154 SCV001199505 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559841 SCV005048231 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-10-05 criteria provided, single submitter clinical testing The c.5473C>T (p.R1825W) alteration is located in exon 37 (coding exon 37) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 5473, causing the arginine (R) at amino acid position 1825 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004553567 SCV004797640 uncertain significance NF1-related disorder 2024-01-31 no assertion criteria provided clinical testing The NF1 c.5536C>T variant is predicted to result in the amino acid substitution p.Arg1846Trp. This variant has been reported in an individual with neurofibromatosis type 1; however, it was also present in unaffected family members and therefore was not considered to be contributing to disease (referred to as p.Arg1825Trp in Ars et al. 2003. PubMed ID: 12807981). This variant has also been reported in an individual with breast cancer (Supplemental Data 1, Momozawa et al. 2018. PubMed ID: 30287823). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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