ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)

dbSNP: rs370981817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669178 SCV000793903 uncertain significance Alstrom syndrome 2017-09-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728513 SCV000856097 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343419 SCV002650247 uncertain significance Cardiovascular phenotype 2021-10-26 criteria provided, single submitter clinical testing The p.D4013E variant (also known as c.12039C>A), located in coding exon 19 of the ALMS1 gene, results from a C to A substitution at nucleotide position 12039. The aspartic acid at codon 4013 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV000669178 SCV003256835 uncertain significance Alstrom syndrome 2021-08-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 4013 of the ALMS1 protein (p.Asp4013Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs370981817, ExAC 0.05%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553675). 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.

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