ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)

gnomAD frequency: 0.00019  dbSNP: rs373366352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038492 SCV001201962 uncertain significance Alstrom syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1351 of the ALMS1 protein (p.His1351Arg). This variant is present in population databases (rs373366352, gnomAD 0.06%). 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: 837210). 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 RCV001559084 SCV001781156 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002320242 SCV002631913 uncertain significance Cardiovascular phenotype 2021-09-22 criteria provided, single submitter clinical testing The p.H1351R variant (also known as c.4052A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 4052. The histidine at codon 1351 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Natera, Inc. RCV001038492 SCV001453452 likely benign Alstrom syndrome 2020-05-02 no assertion criteria provided clinical testing

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