ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)

dbSNP: rs1558667820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701038 SCV000829820 uncertain significance Alstrom syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 3113 of the ALMS1 protein (p.Glu3113Asp). 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: 578120). 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 RCV002369928 SCV002687383 uncertain significance Cardiovascular phenotype 2019-09-20 criteria provided, single submitter clinical testing The p.E3113D variant (also known as c.9339A>T), located in coding exon 10 of the ALMS1 gene, results from an A to T substitution at nucleotide position 9339. The glutamic acid at codon 3113 is replaced by aspartic acid, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV000701038 SCV002815761 uncertain significance Alstrom syndrome 2022-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000701038 SCV002078928 uncertain significance Alstrom syndrome 2021-05-21 no assertion criteria provided clinical testing

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