Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000730690 | SCV000532474 | likely benign | not provided | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000730690 | SCV000858448 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000431183 | SCV000864115 | uncertain significance | not specified | 2017-03-06 | criteria provided, single submitter | clinical testing | Variant summary: The ALMS1 c.6534C>T (alternative name c.6540C>T) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 15/120306 control chromosomes at a frequency of 0.0001247, which does not exceed the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign. |
Invitae | RCV001084643 | SCV001003203 | likely benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000431183 | SCV001365661 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Thr2178Thr in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.02% (13/66518) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs371511963). |
Ce |
RCV000730690 | SCV002563575 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ALMS1: BP4, BP7 |
Ambry Genetics | RCV002365556 | SCV002660866 | likely benign | Cardiovascular phenotype | 2021-12-14 | 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. |