ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs772287164
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Total submissions: 5
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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 2022-08-09 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 1191 of the ALMS1 protein (p.Thr1191Ala). This variant is present in population databases (rs772287164, 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: 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.
Ambry Genetics RCV002451027 SCV002613542 uncertain significance Cardiovascular phenotype 2021-09-03 criteria provided, single submitter clinical testing The p.T1191A variant (also known as c.3571A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 3571. The threonine at codon 1191 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000765699 SCV002080486 uncertain significance Alstrom syndrome 2021-05-18 no assertion criteria provided clinical testing

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