ClinVar Miner

Submissions for variant NM_138927.4(SON):c.4228G>A (p.Val1410Ile)

gnomAD frequency: 0.00020  dbSNP: rs144716297
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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 RCV001901432 SCV002168325 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401862 SCV004104055 uncertain significance SON-related disorder 2023-05-11 criteria provided, single submitter clinical testing The SON c.4228G>A variant is predicted to result in the amino acid substitution p.Val1410Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-34925765-G-A). Although we suspect that this variant may be benign, 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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