ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) (rs730880441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157883 SCV000207814 pathogenic not provided 2011-10-19 criteria provided, single submitter clinical testing The Pro362Leu mutation in the GLA gene has been published previously in an individual with classic Fabry disease and was absent from 100 normal alleles (Shabbeer et al., 2002). Pro362Leu results in a semi-conservative amino acid change of a neutral, polar, sterically-constrained Proline with a neutral, polar Leucine at position that is conserved across species (Shabbeer et al., 2002). In addition, other missense mutations affecting surrounding residues of this hotspot region (Gly360Asp, Gly360Cys, Gly360Ser, Gly361Ala, Gly361Arg, Arg363Cys, Arg363His) have been reported in association with Fabry disease, further supporting the functional importance of this region of the protein. The variant is found in HCM panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000157883 SCV000707788 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing

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