ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)

gnomAD frequency: 0.00009  dbSNP: rs375838474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691102 SCV000818845 uncertain significance Alstrom syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 191 of the ALMS1 protein (p.Leu191Met). This variant is present in population databases (rs375838474, gnomAD 0.1%). This missense change has been observed in individual(s) with cone rod retinal dystrophy (PMID: 32856788). ClinVar contains an entry for this variant (Variation ID: 570278). 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 RCV001861907 SCV002107269 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32856788)
Ambry Genetics RCV002343459 SCV002650626 likely benign Cardiovascular phenotype 2021-12-28 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.
Fulgent Genetics, Fulgent Genetics RCV000691102 SCV002794026 uncertain significance Alstrom syndrome 2022-05-11 criteria provided, single submitter clinical testing

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