ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)

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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 RCV003041480 SCV003445772 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-04-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with SH2D1A-related conditions (PMID: 24616127, 24923536, 32542393). This sequence change creates a premature translational stop signal (p.Gln99*) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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