Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766969 | SCV000533001 | uncertain significance | not provided | 2025-04-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Laboratory for Molecular Medicine, |
RCV000431898 | SCV000713800 | uncertain significance | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg3632His va riant in ALMS1 gene has not been previously reported in individuals with hearing loss or Alstrom syndrome, but has been identified in several populations by the Genome Aggregation Database with the highest frequency of 0.21%(51/24014) of Af rican chromosomes (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs142558799). This variant has also been reported in an affected individual of unspecified ph enotypes in ClinVar (Variation ID: 390222). Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, while the clinical significance of the p.Arg3630His vari ant is uncertain, the frequency data indicate that it is more likely to be benig n. ACMG/AMP criteria applied: BS1_supporting. |
Labcorp Genetics |
RCV001086177 | SCV000756144 | likely benign | Alstrom syndrome | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000431898 | SCV000864101 | uncertain significance | not specified | 2025-02-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000431898 | SCV002070959 | uncertain significance | not specified | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418323 | SCV002725509 | likely benign | Cardiovascular phenotype | 2021-05-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Center for Genomics, |
RCV001086177 | SCV003920004 | uncertain significance | Alstrom syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | ALMS1 NM_015120.4 exon 16 p.Arg3630His (c.10889G>A): This variant has not been reported in the literature and is present in 0.2% (51/24014) of African alleles in the Genome Aggregation Database (http://gnomad-old.broadinstitute.org/variant/2-73799896-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. However, the variant amino acid Histidine (His) is present in two species (dolphin, killer whale). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Natera, |
RCV001086177 | SCV001459599 | likely benign | Alstrom syndrome | 2020-06-05 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000766969 | SCV001798036 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000766969 | SCV001967530 | uncertain significance | not provided | no assertion criteria provided | clinical testing |