ClinVar Miner

Submissions for variant NM_001144952.2(SDK2):c.4130C>G (p.Ala1377Gly)

dbSNP: rs2511331279
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003902063 SCV004717153 uncertain significance SDK2-related disorder 2024-01-03 no assertion criteria provided clinical testing The SDK2 c.4130C>G variant is predicted to result in the amino acid substitution p.Ala1377Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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