ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.658C>G (p.Leu220Val)

gnomAD frequency: 0.00002  dbSNP: rs770774574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766310 SCV002008168 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001885089 SCV002124798 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-08-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252703 SCV002523227 uncertain significance See cases 2019-08-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Ambry Genetics RCV002540641 SCV003702792 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.658C>G (p.L220V) alteration is located in exon 7 (coding exon 7) of the WWOX gene. This alteration results from a C to G substitution at nucleotide position 658, causing the leucine (L) at amino acid position 220 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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