ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) (rs370830603)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431993 SCV000535826 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The H830R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, the H830R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, this substitution occurs at a position that is not conserved across species and in silico analysis suggests that this variant likely does not alter the protein structure/function.
Counsyl RCV000667464 SCV000791917 uncertain significance Alstrom syndrome 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000667464 SCV001221178 uncertain significance Alstrom syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 830 of the ALMS1 protein (p.His830Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs370830603, ExAC 0.001%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 392544). 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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