ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu)

gnomAD frequency: 0.00001  dbSNP: rs878855002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230096 SCV000290105 uncertain significance Alstrom syndrome 2022-08-12 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 2748 of the ALMS1 protein (p.Val2748Leu). This variant is not present in population databases (gnomAD no frequency). 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: 241012). 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 leucine 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 RCV002429130 SCV002681855 uncertain significance Cardiovascular phenotype 2020-02-27 criteria provided, single submitter clinical testing The p.V2748L variant (also known as c.8242G>T), located in coding exon 10 of the ALMS1 gene, results from a G to T substitution at nucleotide position 8242. The valine at codon 2748 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.
Natera, Inc. RCV000230096 SCV002082897 uncertain significance Alstrom syndrome 2021-08-11 no assertion criteria provided clinical testing

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