ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn)

gnomAD frequency: 0.00012  dbSNP: rs794726902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173274 SCV000224371 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV000799461 SCV000939124 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 21 of the KCNMA1 protein (p.Ser21Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 193224). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
GeneDx RCV000173274 SCV001769753 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002517663 SCV003752331 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.62G>A (p.S21N) alteration is located in exon 1 (coding exon 1) of the KCNMA1 gene. This alteration results from a G to A substitution at nucleotide position 62, causing the serine (S) at amino acid position 21 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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