ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.656G>A (p.Ser219Asn)

gnomAD frequency: 0.00001  dbSNP: rs367599412
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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 RCV001066742 SCV001231760 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030623 SCV004978937 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.656G>A (p.S219N) alteration is located in exon 7 (coding exon 7) of the WWOX gene. This alteration results from a G to A substitution at nucleotide position 656, causing the serine (S) at amino acid position 219 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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