ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly)

dbSNP: rs376120513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673299 SCV000798483 uncertain significance Alstrom syndrome 2018-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352096 SCV002654721 uncertain significance Cardiovascular phenotype 2020-01-07 criteria provided, single submitter clinical testing The p.E2024G variant (also known as c.6071A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 6071. The glutamic acid at codon 2024 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly 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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