ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)

dbSNP: rs771595125
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172497 SCV001335550 likely benign Monogenic diabetes 2018-01-02 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (6 predictors), BP1 (missense in gene with truncating cause disease)=Likely benign
Labcorp Genetics (formerly Invitae), Labcorp RCV001244765 SCV001418009 uncertain significance Alstrom syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3776 of the ALMS1 protein (p.Leu3776Val). This variant is present in population databases (rs771595125, gnomAD 0.01%). 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: 916709). 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 RCV002320387 SCV002609655 uncertain significance Cardiovascular phenotype 2019-04-29 criteria provided, single submitter clinical testing The p.L3776V variant (also known as c.11326C>G), located in coding exon 16 of the ALMS1 gene, results from a C to G substitution at nucleotide position 11326. The leucine at codon 3776 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001244765 SCV003928145 uncertain significance Alstrom syndrome criteria provided, single submitter research Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs771595125 in Alstrom syndrome yet.
GeneDx RCV004813829 SCV005439308 uncertain significance not provided 2024-06-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001244765 SCV002079006 uncertain significance Alstrom syndrome 2021-05-14 no assertion criteria provided clinical testing

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