ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.635_637del (p.Ser212del) (rs193922314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029900 SCV000052555 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000482920 SCV000568574 likely pathogenic not provided 2017-11-02 criteria provided, single submitter clinical testing The c.635_637delCCT variant has been published previously in association with MODY (Kawakita et al., 2014; Hanna et al., 2016). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). It results in an in-frame deletion of the conserved Serine residue at codon 212. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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