ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)

gnomAD frequency: 0.00003  dbSNP: rs1356972872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727878 SCV000855381 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328363 SCV001519473 uncertain significance not specified 2021-03-15 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.2512G>A (p.Ala838Thr) results in a non-conservative amino acid change located in the Alstrom syndrome repeat (IPR040972) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 248898 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2512G>A in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001341357 SCV001535226 uncertain significance Alstrom syndrome 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 840 of the ALMS1 protein (p.Ala840Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 592967). 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 RCV003303207 SCV003997942 uncertain significance Cardiovascular phenotype 2023-03-23 criteria provided, single submitter clinical testing The p.A840T variant (also known as c.2518G>A), located in coding exon 8 of the ALMS1 gene, results from a G to A substitution at nucleotide position 2518. The alanine at codon 840 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.
Natera, Inc. RCV001341357 SCV002080457 uncertain significance Alstrom syndrome 2021-03-18 no assertion criteria provided clinical testing

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