ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.225A>G (p.Arg75=)

gnomAD frequency: 0.00003  dbSNP: rs371553659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769384 SCV002001248 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV005095036 SCV005778036 benign X-linked lymphoproliferative disease due to SH2D1A deficiency 2024-11-03 criteria provided, single submitter clinical testing

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