ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)

dbSNP: rs1670514979
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239866 SCV001412768 uncertain significance Alstrom syndrome 2024-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 43 of the ALMS1 protein (p.Val43Ile). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 965423). 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.
GeneDx RCV001751474 SCV001988365 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004034629 SCV005027104 uncertain significance Cardiovascular phenotype 2023-12-14 criteria provided, single submitter clinical testing The c.126_127delGGinsCA variant, located in coding exon 1 of the ALMS1 gene, results from an in-frame deletion of GG and insertion of CA at nucleotide positions 126 to 127. This results in the substitution of the valine residue for an isoleucine residue at codon 43, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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