ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)

gnomAD frequency: 0.00019  dbSNP: rs367656336
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557119 SCV000631795 uncertain significance Alstrom syndrome 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 2214 of the ALMS1 protein (p.Asp2214Tyr). This variant is present in population databases (rs367656336, gnomAD 0.07%). 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: 459879). 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.
Counsyl RCV000557119 SCV000792726 uncertain significance Alstrom syndrome 2017-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367800 SCV002662200 likely benign Cardiovascular phenotype 2023-03-24 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 RCV000557119 SCV002784468 uncertain significance Alstrom syndrome 2022-03-29 criteria provided, single submitter clinical testing
GeneDx RCV003222021 SCV003918768 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Natera, Inc. RCV000557119 SCV001463057 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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