ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)

dbSNP: rs2147534047
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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 RCV001963121 SCV002242037 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-09-30 criteria provided, single submitter clinical testing This variant disrupts a region of the SH2D1A protein in which other variant(s) (p.Gly93Asp) have been observed in individuals with SH2D1A-related conditions (PMID: 28816794). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1459603). This variant is also known as g.23917insA. This premature translational stop signal has been observed in individual(s) with X-linked lymphoproliferative syndrome (PMID: 20632414; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn82Lysfs*22) in the SH2D1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the SH2D1A protein. For these reasons, this variant has been classified as Pathogenic.

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