ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)

gnomAD frequency: 0.00001  dbSNP: rs937731506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664834 SCV000788852 uncertain significance Alstrom syndrome 2017-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369792 SCV002683683 uncertain significance Cardiovascular phenotype 2021-06-03 criteria provided, single submitter clinical testing The p.D2993Y variant (also known as c.8977G>T), located in coding exon 10 of the ALMS1 gene, results from a G to T substitution at nucleotide position 8977. The aspartic acid at codon 2993 is replaced by tyrosine, an amino acid with highly dissimilar 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 RCV000664834 SCV003250823 uncertain significance Alstrom syndrome 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 2993 of the ALMS1 protein (p.Asp2993Tyr). This variant is not present in population databases (gnomAD no frequency). 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: 550165). 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.
Natera, Inc. RCV000664834 SCV001465804 uncertain significance Alstrom syndrome 2020-08-14 no assertion criteria provided clinical testing

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