ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)

dbSNP: rs186141821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671004 SCV000795939 uncertain significance Alstrom syndrome 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV000671004 SCV003449303 uncertain significance Alstrom syndrome 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3854 of the ALMS1 protein (p.His3854Gln). This variant is present in population databases (rs186141821, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. 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: 555225). 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 RCV003380667 SCV004096722 uncertain significance Cardiovascular phenotype 2023-08-08 criteria provided, single submitter clinical testing The p.H3854Q variant (also known as c.11562T>A), located in coding exon 17 of the ALMS1 gene, results from a T to A substitution at nucleotide position 11562. The histidine at codon 3854 is replaced by glutamine, an amino acid with highly 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.

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