ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3682C>T (p.Arg1228Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720662 SCV005329468 likely pathogenic 3M syndrome 2 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained c.3682C>T(p.Arg1228Ter) variant in OBSL1 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3682C>T variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The nucleotide change c.3682C>T in OBSL1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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