Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000398301 | SCV000330244 | pathogenic | not provided | 2023-02-02 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that this variant may affect RNA splicing by strengthening an upstream cryptic splice donor site (Trifillis et al., 1996); In silico analysis supports that this missense variant does not alter protein structure/function; However, In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 12402333, 3401592, 1742490, 9054695, 23215833, 1398286, 25333069, 27884173, 20854114, 26754299, 27461962, 23797957, 30487145, 31980526, 34426522, 31688628, 31589614, 33178177, 10975439, 8900178) |
Illumina Laboratory Services, |
RCV001107109 | SCV001264239 | likely benign | Fetal hemoglobin quantitative trait locus 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Revvity Omics, |
RCV000398301 | SCV004236133 | pathogenic | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003987322 | SCV004804765 | likely pathogenic | Glucocorticoid-remediable aldosteronism | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000016221 | SCV000036489 | pathogenic | delta Thalassemia | 2002-11-01 | no assertion criteria provided | literature only | |
OMIM | RCV000016222 | SCV000036490 | other | HEMOGLOBIN A(2) YIALOUSA | 2017-12-12 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000016221 | SCV001142416 | pathogenic | delta Thalassemia | 2020-01-06 | no assertion criteria provided | curation | NM_000519.3:c.82G>T in the HBD gene has an allele frequency of 0.008 in Ashkenazi Jewish subpopulation in the gnomAD database. The HBD c.82G>T (p.Ala28Ser) was the most common variant found in the HBD gene in a Iran cohort with thalassemia (PMID: 26754299). In addition, De Angioletti et al. also reported that the Hb A2-Yialousa (g.82G>T) was the most prevalent (42/63 families). Functional studies indicate that A28S may affect RNA splicing by strengthening an upstream cryptic splice donor site (PMID: 1742490). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS4; PP4; PS3. |