ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)

gnomAD frequency: 0.00012  dbSNP: rs368957150
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Total submissions: 8
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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 RCV000445416 SCV000536994 uncertain significance Monogenic diabetes 2015-10-27 criteria provided, single submitter research ACMG Criteria: PP3, BP4
Counsyl RCV000670980 SCV000795912 uncertain significance Alstrom syndrome 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV000670980 SCV001413858 uncertain significance Alstrom syndrome 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 3872 of the ALMS1 protein (p.Asn3872Tyr). This variant is present in population databases (rs368957150, gnomAD 0.02%). 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: 393380). 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.
GeneDx RCV001813777 SCV002061113 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002356628 SCV002620812 uncertain significance Cardiovascular phenotype 2023-05-23 criteria provided, single submitter clinical testing The p.N3872Y variant (also known as c.11614A>T), located in coding exon 17 of the ALMS1 gene, results from an A to T substitution at nucleotide position 11614. The asparagine at codon 3872 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Fulgent Genetics, Fulgent Genetics RCV000670980 SCV002784474 uncertain significance Alstrom syndrome 2022-01-11 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000670980 SCV003928146 uncertain risk allele 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 rs368957150 in Alstrom syndrome yet.
Natera, Inc. RCV000670980 SCV002079020 uncertain significance Alstrom syndrome 2020-03-04 no assertion criteria provided clinical testing

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