ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) (rs201252809)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514773 SCV000536368 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Invitae RCV000468894 SCV000541333 uncertain significance Alstrom syndrome 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2805 of the ALMS1 protein (p.Arg2805His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs201252809, ExAC 0.08%). This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 393018). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. ClinVar contains an entry for this variant (Variation ID: 393018).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514773 SCV000610094 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000468894 SCV000897045 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000468894 SCV001781463 uncertain significance Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000514773 SCV000924727 uncertain significance not provided 2016-08-16 no assertion criteria provided provider interpretation
Natera, Inc. RCV000468894 SCV001453027 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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