ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly)

dbSNP: rs111033625
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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 RCV001975588 SCV002247793 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-07-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant results in an extension of the SH2D1A protein. Other variant(s) that result in a similarly extended protein product (p.*129Argext*12) have been observed in individuals with SH2D1A-related disease (PMID: 18055393, 19937601, 21815800, 29604111). This suggests that these extensions may be clinically significant. ClinVar contains an entry for this variant (Variation ID: 1471227). This variant has not been reported in the literature in individuals affected with SH2D1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the SH2D1A mRNA. It is expected to extend the length of the SH2D1A protein by 12 additional amino acid residues.

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