ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)

gnomAD frequency: 0.00020  dbSNP: rs188857186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665885 SCV000790080 uncertain significance Alstrom syndrome 2017-03-14 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375249 SCV001572047 uncertain significance Complete trisomy 21 syndrome 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
GeneDx RCV001570601 SCV001794923 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 550971; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002424570 SCV002680467 uncertain significance Cardiovascular phenotype 2023-06-01 criteria provided, single submitter clinical testing The p.V2748G variant (also known as c.8243T>G), located in coding exon 10 of the ALMS1 gene, results from a T to G substitution at nucleotide position 8243. The valine at codon 2748 is replaced by glycine, an amino acid with dissimilar 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.
Invitae RCV000665885 SCV002959945 uncertain significance Alstrom syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2748 of the ALMS1 protein (p.Val2748Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 550971). 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.

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