ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)

gnomAD frequency: 0.00001  dbSNP: rs200979896
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726963 SCV000620708 uncertain significance not provided 2024-03-06 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000545359 SCV000631797 uncertain significance Alstrom syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2277 of the ALMS1 protein (p.Arg2277Gln). This variant is present in population databases (rs200979896, gnomAD 0.1%). 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: 451941). 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.
Eurofins Ntd Llc (ga) RCV000726963 SCV000704510 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000545359 SCV002781411 uncertain significance Alstrom syndrome 2021-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159689 SCV003912812 likely benign Cardiovascular phenotype 2023-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Natera, Inc. RCV000545359 SCV001455463 uncertain significance Alstrom syndrome 2020-01-17 no assertion criteria provided clinical testing

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