ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=)

gnomAD frequency: 0.00004  dbSNP: rs771845478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732665 SCV000590245 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ2 gene. The c.1347 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1347 C>T variant is observed in 1/8434 (0.01%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1347 C>T creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Eurofins Ntd Llc (ga) RCV000732665 SCV000860641 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765495 SCV000896791 uncertain significance Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001038432 SCV001201899 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-17 criteria provided, single submitter clinical testing

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