ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)

dbSNP: rs770788315
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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 RCV000695511 SCV000824017 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-08-30 criteria provided, single submitter clinical testing This variant, c.1231_1233del, results in the deletion of 1 amino acid(s) of the WWOX protein (p.Ser411del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770788315, gnomAD 0.006%). This variant has been observed in individual(s) with global developmental delay and multiple congenital anomalies (PMID: 27959697). ClinVar contains an entry for this variant (Variation ID: 374383). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Baylor Genetics RCV000415436 SCV000328757 uncertain significance Autosomal recessive spinocerebellar ataxia 12 2014-04-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GATAD2B (NM_020699.2, c.694C>T) and WWOX (NM_130791.2, c.548G>T and c.1231_1233del in trans) in one individual with reported features that include global developmental delay, developmental regression, joint pain after illness, hypotonia, ataxia, dysmorphic features (tall forehead, epicanthal folds and single palmar creases), congenital macrocephaly, anisocoria, astigmatism and strabismus, myopia, aortic valve dysplasia, upper respiratory infections, prenatal history of cystic hygroma and polyhydramnios, pes planus, and central apnea.

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