ClinVar Miner

Submissions for variant NM_020905.4(RDH14):c.114dup (p.Gly39fs)

dbSNP: rs779464218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health RCV001254942 SCV001167015 likely pathogenic Intellectual disability; Cerebellar atrophy 2020-03-03 no assertion criteria provided research The NM_020905.3:c.114dup/ Gly39Argfs*97 biallelic variant in RDH14 is reported segregating in two affected members of a single large family from Pakistan (Pastore et al, submitted). The variant is predicted to lead to premature truncation of the protein with loss of function, along with nonsense-mediated mRNA decay. No corroborative evidence from other families, or from animal models is available as yet, and thus there remain reservations as to the pathogenicity.

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