ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)

gnomAD frequency: 0.00014  dbSNP: rs371516347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469202 SCV000541353 uncertain significance Alstrom syndrome 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 120 of the ALMS1 protein (p.Gln120Arg). This variant is present in population databases (rs371516347, gnomAD 0.06%). 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: 403945). 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.
GeneDx RCV001584125 SCV001819391 uncertain significance not provided 2021-09-21 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
Ambry Genetics RCV002451062 SCV002614921 likely benign Cardiovascular phenotype 2023-01-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000469202 SCV002789978 uncertain significance Alstrom syndrome 2022-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000469202 SCV001463496 uncertain significance Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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