ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)

gnomAD frequency: 0.00004  dbSNP: rs553406974
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634785 SCV000756128 uncertain significance Alstrom syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1156 of the ALMS1 protein (p.His1156Pro). This variant is present in population databases (rs553406974, gnomAD 0.03%). 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: 529374). 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.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172516 SCV001335569 likely benign Monogenic diabetes 2018-01-05 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating cause disease)=likely benign
Ambry Genetics RCV002460098 SCV002618428 uncertain significance Cardiovascular phenotype 2024-08-13 criteria provided, single submitter clinical testing The p.H1156P variant (also known as c.3467A>C), located in coding exon 8 of the ALMS1 gene, results from an A to C substitution at nucleotide position 3467. The histidine at codon 1156 is replaced by proline, an amino acid with similar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000634785 SCV003928161 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 rs553406974 in Alstrom syndrome yet.
GeneDx RCV004723005 SCV005333843 uncertain significance not provided 2024-02-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000634785 SCV001458921 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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