ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)

gnomAD frequency: 0.00001  dbSNP: rs772620985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296089 SCV001485044 uncertain significance Alstrom syndrome 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2265 of the ALMS1 protein (p.Thr2265Ala). This variant is present in population databases (rs772620985, 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: 1000016). 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 RCV001760337 SCV001999346 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001296089 SCV002082839 uncertain significance Alstrom syndrome 2020-11-04 no assertion criteria provided clinical testing

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