ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp)

gnomAD frequency: 0.00001  dbSNP: rs963466695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376524 SCV001573702 uncertain significance Alstrom syndrome 2021-04-08 criteria provided, single submitter research The ALMS1 c.12370T>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Invitae RCV001376524 SCV002220275 uncertain significance Alstrom syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 4124 of the ALMS1 protein (p.Tyr4124Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. 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 RCV002368213 SCV002664040 uncertain significance Cardiovascular phenotype 2019-11-11 criteria provided, single submitter clinical testing The p.Y4124D variant (also known as c.12370T>G), located in coding exon 22 of the ALMS1 gene, results from a T to G substitution at nucleotide position 12370. The tyrosine at codon 4124 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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