ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)

gnomAD frequency: 0.00004  dbSNP: rs191286546
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666488 SCV000790792 uncertain significance Alstrom syndrome 2017-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666488 SCV001236802 uncertain significance Alstrom syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2027 of the ALMS1 protein (p.Lys2027Glu). This variant is present in population databases (rs191286546, gnomAD 0.009%). 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: 551430). 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.
Genome-Nilou Lab RCV000666488 SCV001781466 uncertain significance Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666488 SCV002775138 uncertain significance Alstrom syndrome 2022-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026092 SCV005026787 likely benign Cardiovascular phenotype 2023-11-13 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.
CeGaT Center for Human Genetics Tuebingen RCV004597854 SCV005093351 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing ALMS1: PM2, BP4
Natera, Inc. RCV000666488 SCV002082819 uncertain significance Alstrom syndrome 2021-06-07 no assertion criteria provided clinical testing

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