ClinVar Miner

Submissions for variant NM_018196.3(TMLHE):c.229C>T (p.Arg77Ter) (rs781889971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256080 SCV000322111 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing The R77X variant in the TMLHE gene has been reported previously in two male siblings with autism and moderate intellectual disability who had elevated 6-N-trimethyllysine, the TMLHE substrate; however, these individuals harbored additional variants in other x-linked genes that may also have contributed to the autism and intellectual disability (Nava et al., 2012). This variant may cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R77X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R77X as a variant of uncertain significance.
OMIM RCV000210875 SCV000267175 risk factor Autism, susceptibility to, X-linked 6 2012-10-23 no assertion criteria provided literature only

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