ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) (rs372015288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668578 SCV000793204 uncertain significance Alstrom syndrome 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV000668578 SCV001234521 uncertain significance Alstrom syndrome 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 3130 of the ALMS1 protein (p.Gln3130Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs372015288, ExAC 0.002%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553183). 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 RCV001756133 SCV001996418 uncertain significance not provided 2019-10-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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