ClinVar Miner

Submissions for variant NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del (rs1555987215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627405 SCV000748399 pathogenic not provided 2018-03-09 criteria provided, single submitter clinical testing The c.26delA variant in the GLA gene has been reported previously in association with Fabry disease using alternate nomenclature (Eng et al., 1994). The deletion causes a frameshift starting with codon Histidine 9, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 112 of the new reading frame, denoted p.His9LeufsX112. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.26delA variant is not observed in large population cohorts (Lek et al., 2016). In summary, we interpret this variant as pathogenic.
Invitae RCV000627820 SCV000748697 pathogenic Fabry disease 2018-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His9Leufs*112) in the GLA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with classical Fabry disease and in one unaffected carrier female (PMID: 10916280, 15712228). Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). For these reasons, this variant has been classified as Pathogenic.

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