ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)

gnomAD frequency: 0.00001  dbSNP: rs746702722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465433 SCV000541324 uncertain significance Alstrom syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 3441 of the ALMS1 protein (p.Arg3441Gly). This variant is present in population databases (rs746702722, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. 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: 403921). 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.
Counsyl RCV000465433 SCV000789273 uncertain significance Alstrom syndrome 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001539961 SCV001757789 likely benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393076 SCV002702608 uncertain significance Cardiovascular phenotype 2020-10-13 criteria provided, single submitter clinical testing The p.R3441G variant (also known as c.10321A>G), located in coding exon 15 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10321. The arginine at codon 3441 is replaced by glycine, an amino acid with dissimilar 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.
Natera, Inc. RCV000465433 SCV001465809 benign Alstrom syndrome 2020-11-10 no assertion criteria provided clinical testing

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