ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2929_2932del (p.Leu977fs)

dbSNP: rs1555736246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599166 SCV000710197 likely pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing The c.2929_2932delCTAT variant in the INSR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2929_2932delCTAT variant causes a frameshift starting with codon Leucine 977, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu977SerfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2929_2932delCTAT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2929_2932delCTAT as a likely pathogenic variant.

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