ClinVar Miner

Submissions for variant NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192398 SCV001360484 pathogenic Fabry disease 2019-05-29 criteria provided, single submitter clinical testing Variant summary: GLA c.803_806delTAGT (p.Leu268X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.901C>T (p.Arg301X), c.1021G>T(p.Glu341X)). The variant was absent in 182745 control chromosomes (gnomAD) but has been reported in the literature in male patients affected with Fabry Disease as well as in symptomatic heterozygous females (Juchniewicz_2018, Wijburg_2014, Lee_2000). Taken together, these data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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