ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys)

gnomAD frequency: 0.00014  dbSNP: rs761712682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821424 SCV000962179 uncertain significance Alstrom syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 3512 of the ALMS1 protein (p.Trp3512Cys). This variant is present in population databases (rs761712682, gnomAD 0.05%). 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: 663532). 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 RCV002397720 SCV002704436 uncertain significance Cardiovascular phenotype 2022-01-31 criteria provided, single submitter clinical testing The p.W3512C variant (also known as c.10536G>T), located in coding exon 16 of the ALMS1 gene, results from a G to T substitution at nucleotide position 10536. The tryptophan at codon 3512 is replaced by cysteine, an amino acid with highly dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV000821424 SCV002815187 uncertain significance Alstrom syndrome 2022-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000821424 SCV002078973 uncertain significance Alstrom syndrome 2021-04-28 no assertion criteria provided clinical testing

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