ClinVar Miner

Submissions for variant NM_016120.4(RLIM):c.1729T>C (p.Tyr577His) (rs1569309484)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine, Nationwide Children's Hospital RCV000735274 SCV000854638 likely pathogenic Mental retardation, X-linked 61 2018-12-05 criteria provided, single submitter research The Tyr577His variant in RLIM was reported along with several other hemizygous missense mutations in males with a syndromic X-linked intellectual disability and behavioral disorder (Family E in Frints et al, 2018). This variant is not observed in large population cohorts such as gnomAD (Lek et al, 2016), and is predicted to be damaging by a majority of computational tools. The Tyr577His variant occurs in the C-terminal catalytic RING-H2 zinc finger domain of the protein; in vitro functional studies indicate that missense changes in this domain impair RLIM ubiquitin ligase activity (Frints et al, 2018). It segregates with disease in the observed family E consistent with X-linked recessive inheritance. We therefore interpret Tyr577His as a likely pathogenic variant.

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