ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)

dbSNP: rs2059993641
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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 RCV001229574 SCV001402023 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-11-23 criteria provided, single submitter clinical testing This variant, c.82_102dup, results in the insertion of 7 amino acid(s) of the SH2D1A protein (p.Ser28_Ser34dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of X-linked recessive lymphoproliferative syndrome 1 (XLP1) (Invitae). ClinVar contains an entry for this variant (Variation ID: 956716). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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