ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter)

dbSNP: rs746035909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949632 SCV002240351 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2021-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with X-linked lymphoproliferative syndrome (PMID: 11049992, 33329693). This variant is present in population databases (rs746035909, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Trp64*) in the SH2D1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SH2D1A are known to be pathogenic (PMID: 9771704, 11049992, 15711562).

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