ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) (rs757605635)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493362 SCV000581888 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The c.2170_2184dup15 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2170_2184dup15 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2170_2184dup15 variant results in an in-frame duplication of five amino acid residues, denoted p.Pro724_Leu728dup. The c.2170_2184dup15 variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000706927 SCV000836002 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-03-05 criteria provided, single submitter clinical testing This variant, c.2170_2184dupCCCTGCGACCTGCTG, results in the insertion of 5 amino acids to the KCNT1 protein (p.Pro724_Leu728dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNT1-related disease. ClinVar contains an entry for this variant (Variation ID: 429344). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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