ClinVar Miner

Submissions for variant NM_001199973.2(RPL36A-HNRNPH2):c.300+2431_300+2433del (rs869312241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011504 SCV001416340 pathogenic Fabry disease 2019-10-21 criteria provided, single submitter clinical testing This variant, c.1212_1214del, results in the deletion of 1 amino acid(s) of the GLA protein (p.Arg404del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fabry disease (PMID: 7504405, 15091117, 9100224, 25386848). ClinVar contains an entry for this variant (Variation ID: 10757). This variant is also known as 1209del3 or 1208del3 in the literature. This variant has been reported to affect GLA protein function (PMID: 26415523). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011504 SCV000031736 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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