Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001459555 | SCV001663398 | likely benign | Alstrom syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282554 | SCV002570870 | likely benign | not specified | 2022-07-05 | criteria provided, single submitter | clinical testing | Variant summary: ALMS1 c.12279C>T (also known as c.12285C>T in RefSeq) alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing, however, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.8e-05 in 251196 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in ALMS1 causing Alstrom Syndrome With Dilated Cardiomyopathy (4.8e-05 vs 0.0018), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.12279C>T in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Natera, |
RCV001459555 | SCV002081409 | likely benign | Alstrom syndrome | 2020-06-21 | no assertion criteria provided | clinical testing |