ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)

gnomAD frequency: 0.00003  dbSNP: rs954824608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237812 SCV001410591 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-05-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 963742). This variant has not been reported in the literature in individuals affected with SH2D1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 73 of the SH2D1A protein (p.His73Gln).
CeGaT Center for Human Genetics Tuebingen RCV002069308 SCV002498167 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SH2D1A: PP2, BS2

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