ClinVar Miner

Submissions for variant NM_002351.4(SH2D1A):c.20A>G (p.Tyr7Cys) (rs1569527111)

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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 RCV000781847 SCV000920209 pathogenic X-Linked Lymphoproliferative Syndrome 2018-04-13 criteria provided, single submitter clinical testing Variant summary: SH2D1A c.20A>G (p.Tyr7Cys) results in a non-conservative amino acid change located in the SH2 domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 87455 control chromosomes (ExAC). The variant, c.20A>G, has been reported in the literature in multiple individuals affected with X-linked Lymphoproliferative Disease (Morra_2001, Gifford_2014, Kanegane_2012, Sperl_2012). These data indicate that the variant is very likely to be associated with disease. A publication, Morra_2001, functionally assessed the variant and found it to significantly decrease SH2D1A protein half-life. No clinical diagnostic laboratories have submitted 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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