ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)

gnomAD frequency: 0.00001  dbSNP: rs760968067
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Total submissions: 3
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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, LabCorp 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, Inc. RCV001459555 SCV002081409 likely benign Alstrom syndrome 2020-06-21 no assertion criteria provided clinical testing

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