ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)

gnomAD frequency: 0.00013  dbSNP: rs200368564
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421757 SCV000535825 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445488 SCV000536978 likely benign Monogenic diabetes 2015-03-20 criteria provided, single submitter research
Ambry Genetics RCV002365572 SCV002659044 uncertain significance Cardiovascular phenotype 2021-04-30 criteria provided, single submitter clinical testing The p.V2122L variant (also known as c.6364G>C), located in coding exon 8 of the ALMS1 gene, results from a G to C substitution at nucleotide position 6364. The valine at codon 2122 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine 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.
Invitae RCV001272958 SCV003242265 uncertain significance Alstrom syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2122 of the ALMS1 protein (p.Val2122Leu). This variant is present in population databases (rs200368564, gnomAD 0.008%). 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: 392543). 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001272958 SCV003928171 uncertain significance Alstrom syndrome criteria provided, single submitter research Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs200368564 in Alstrom syndrome yet.
Natera, Inc. RCV001272958 SCV001455462 uncertain significance Alstrom syndrome 2020-01-17 no assertion criteria provided clinical testing

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