ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) (rs772287164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431650 SCV000530296 uncertain significance not provided 2020-05-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics,Fulgent Genetics RCV000765699 SCV000897043 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765699 SCV001570659 uncertain significance Alstrom syndrome 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1191 of the ALMS1 protein (p.Thr1191Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs772287164, ExAC 0.007%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 388080). 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.

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