ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)

gnomAD frequency: 0.00002  dbSNP: rs377523400
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665249 SCV000789338 uncertain significance Alstrom syndrome 2017-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334232 SCV002640484 likely benign Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000665249 SCV002815250 uncertain significance Alstrom syndrome 2022-04-14 criteria provided, single submitter clinical testing
Invitae RCV000665249 SCV003512888 uncertain significance Alstrom syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 3967 of the ALMS1 protein (p.Glu3967Val). This variant is present in population databases (rs377523400, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550493). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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