ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)

gnomAD frequency: 0.00002  dbSNP: rs568470985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667750 SCV000792249 uncertain significance Alstrom syndrome 2017-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369800 SCV002685104 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The p.S292T variant (also known as c.875G>C), located in coding exon 5 of the ALMS1 gene, results from a G to C substitution at nucleotide position 875. The serine at codon 292 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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.
Invitae RCV000667750 SCV003440726 uncertain significance Alstrom syndrome 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 292 of the ALMS1 protein (p.Ser292Thr). This variant is present in population databases (rs568470985, gnomAD 0.003%). 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: 552481). 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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