ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3203del (p.Asn1068fs)

dbSNP: rs878855063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231461 SCV000290561 uncertain significance Multiple endocrine neoplasia, type 2 2016-02-05 criteria provided, single submitter clinical testing Experimental studies have not been published for this variant, and the functional effect of this truncation is unknown. This sequence change deletes 1 nucleotide from exon 20 of the RET mRNA (c.3203delA), causing a frameshift at codon 1068. This creates a premature translational stop signal in the last exon of the RET mRNA (p.Asn1068Thrfs*41). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated RET protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RET-related disease. In summary, this is a novel truncation in the last exon of RET, with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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