ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)

gnomAD frequency: 0.00024  dbSNP: rs201738475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361942 SCV001557935 uncertain significance Alstrom syndrome 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2923 of the ALMS1 protein (p.Ile2923Thr). This variant is present in population databases (rs201738475, gnomAD 0.07%). 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: 1053575). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002377514 SCV002686242 likely benign Cardiovascular phenotype 2021-09-15 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 RCV001361942 SCV002814917 uncertain significance Alstrom syndrome 2021-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394001 SCV004119856 uncertain significance ALMS1-related condition 2023-07-06 criteria provided, single submitter clinical testing The ALMS1 c.8768T>C variant is predicted to result in the amino acid substitution p.Leu2923Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-73717857-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001361942 SCV002082924 uncertain significance Alstrom syndrome 2021-05-20 no assertion criteria provided clinical testing

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