ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)

gnomAD frequency: 0.00004  dbSNP: rs551837418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066002 SCV001230995 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001066002 SCV002770903 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224520 SCV003920435 uncertain significance Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 2022-07-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.05% (8/15272) (https://gnomad.broadinstitute.org/variant/2-165097255-T-C?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:859810). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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