ClinVar Miner

Submissions for variant NM_020975.6(RET):c.447C>T (p.Phe149=)

gnomAD frequency: 0.00001  dbSNP: rs989787527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002150272 SCV002418516 likely benign Multiple endocrine neoplasia, type 2 2024-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161539 SCV003869105 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-02 criteria provided, single submitter clinical testing The c.447C>T variant (also known as p.F149F), located in coding exon 3 of the RET gene, results from a C to T substitution at nucleotide position 447. This nucleotide substitution does not change the at codon 149. This variant has been reported, in trans with a RET missense variant, in a patient with long-segment familial Hirschsprung's disease (Fitze G et al. Lancet, 2002 Apr;359:1200-5).This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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