ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)

gnomAD frequency: 0.00020  dbSNP: rs377360750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480373 SCV000574089 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
Invitae RCV000546991 SCV000631794 uncertain significance Alstrom syndrome 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2149 of the ALMS1 protein (p.Pro2149Thr). This variant is present in population databases (rs377360750, gnomAD 0.09%). 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: 424295). 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.
Ambry Genetics RCV002367657 SCV002657450 likely benign Cardiovascular phenotype 2022-04-19 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 RCV000546991 SCV002814954 uncertain significance Alstrom syndrome 2022-03-29 criteria provided, single submitter clinical testing

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