ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1260G>A (p.Pro420=)

gnomAD frequency: 0.00006  dbSNP: rs776487308
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810364 SCV000950560 uncertain significance Developmental and epileptic encephalopathy, 30 2022-12-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 654402). This variant has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (Invitae). 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 sequence change affects codon 420 of the SIK1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SIK1 protein.

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