ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.972C>T (p.Ser324=)

gnomAD frequency: 0.00004  dbSNP: rs765820644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877806 SCV001020595 benign Developmental and epileptic encephalopathy, 32 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001354563 SCV004124201 benign not provided 2022-10-01 criteria provided, single submitter clinical testing KCNA2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001354563 SCV005280336 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354563 SCV001549210 uncertain significance not provided no assertion criteria provided clinical testing The KCNA2 p.Ser324Ser variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs765820644) and in 55 of 251360 chromosomes at a frequency of 0.000219 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: South Asian in 46 of 30614 chromosomes (freq: 0.001503), Ashkenazi Jewish in 4 of 10078 chromosomes (freq: 0.000397), Other in 1 of 6132 chromosomes (freq: 0.000163) and European (non-Finnish) in 4 of 113730 chromosomes (freq: 0.000035); it was not observed in the African, Latino, East Asian and European (Finnish) populations. The p.Ser324Ser variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. Further, in silico or computational prediction software programs, (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a significance difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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