Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284628 | SCV001470513 | uncertain significance | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001284628 | SCV001474250 | likely benign | not provided | 2023-02-06 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526597 | SCV005039757 | uncertain significance | not specified | 2024-03-19 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.142G>A (p.Asp48Asn) results in a conservative amino acid change located in the Globin (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251436 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.142G>A has been reported in the literature in individuals affected with Beta Thalassemia (Zhang_2017, Vinciguerra_2013). These report(s) do not provide unequivocal conclusions about association of the variant with Beta Thalassemia. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Riou_2014). The following publications have been ascertained in the context of this evaluation (PMID: 25130136, 24401016, 28143837, 26635043). ClinVar contains an entry for this variant (Variation ID: 15170). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| OMIM | RCV000016342 | SCV000036610 | other | HEMOGLOBIN G (COPENHAGEN) | 2017-12-12 | no assertion criteria provided | literature only |