ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)

gnomAD frequency: 0.00011  dbSNP: rs150331660
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445492 SCV000536975 uncertain significance Monogenic diabetes 2015-10-16 criteria provided, single submitter research ACMG Criteria: PP3, BP4
Counsyl RCV000665779 SCV000789951 uncertain significance Alstrom syndrome 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000665779 SCV001225738 uncertain significance Alstrom syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1998 of the ALMS1 protein (p.Lys1998Arg). This variant is present in population databases (rs150331660, gnomAD 0.03%). 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: 393374). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002356627 SCV002658773 uncertain significance Cardiovascular phenotype 2020-01-02 criteria provided, single submitter clinical testing The p.K1998R variant (also known as c.5993A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5993. The lysine at codon 1998 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000665779 SCV003928144 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 rs150331660 in Alstrom syndrome yet.
Natera, Inc. RCV000665779 SCV002080545 uncertain significance Alstrom syndrome 2021-01-07 no assertion criteria provided clinical testing

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