ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.603-3_603-2del

dbSNP: rs770371377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052477 SCV001216689 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the SCN3A gene. It does not directly change the encoded amino acid sequence of the SCN3A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs770371377, gnomAD 0.01%). This variant has been observed in individual(s) with SCN3A-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 848668). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002479323 SCV002792497 uncertain significance Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 2022-03-03 criteria provided, single submitter clinical testing

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