ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2846del (p.Gly949fs)

dbSNP: rs794728689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182592 SCV000234946 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing This oathogenic variant is denoted c.2846delG at the cDNA level or at the protein level as p.Gly949GlufsX16. The normal sequence with the base that is deleted in braces is: AGGGG{G}AAAC. The c.2846delG variant in the RET gene causes a frameshift starting with codon Glycine 949, changes this amino acid to a Glutamic Acid residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Gly949GlufsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Hirschsprung disease.

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