ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) (rs796214553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726307 SCV000343609 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000726307 SCV000582313 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The c.1077_1078delAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1077_1078delAG variant is observed in 1/8544 (0.01%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1077_1078delAG variant causes a frameshift starting with codon Glycine 361, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 134 of the new reading frame, denoted p.Gly361GlnfsX134. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, only missense variants have been reported in the Human Gene Mutation Database in association with KCNT1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000726307 SCV000834343 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing

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