ClinVar Miner

Submissions for variant NM_004356.4(CD81):c.583G>A (p.Asp195Asn)

gnomAD frequency: 0.00008  dbSNP: rs144435973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281057 SCV001468482 uncertain significance Immunodeficiency, common variable, 6 2021-03-30 criteria provided, single submitter clinical testing CD81 NM_004356.3 exon 7 p.Asp195Asn (c.583G>A): This variant has not been reported in the literature but is present in 0.05% (19/35418) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-2417879-G-A?dataset=gnomad_r2_1). This variant amino acid Asparagine (Asn) is present in the opossum and several fish species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001871628 SCV002281237 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 195 of the CD81 protein (p.Asp195Asn). This variant is present in population databases (rs144435973, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CD81-related conditions. ClinVar contains an entry for this variant (Variation ID: 992559). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004035518 SCV003695085 uncertain significance not specified 2022-03-16 criteria provided, single submitter clinical testing The c.583G>A (p.D195N) alteration is located in exon 7 (coding exon 7) of the CD81 gene. This alteration results from a G to A substitution at nucleotide position 583, causing the aspartic acid (D) at amino acid position 195 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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