ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)

gnomAD frequency: 0.00004  dbSNP: rs372015288
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668578 SCV000793204 uncertain significance Alstrom syndrome 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV000668578 SCV001234521 uncertain significance Alstrom syndrome 2021-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3130 of the ALMS1 protein (p.Gln3130Pro). This variant is present in population databases (rs372015288, gnomAD 0.0009%). 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: 553183). 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.
GeneDx RCV001756133 SCV001996418 uncertain significance not provided 2022-10-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000668578 SCV002814169 uncertain significance Alstrom syndrome 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163061 SCV003857280 uncertain significance Cardiovascular phenotype 2023-01-13 criteria provided, single submitter clinical testing The p.Q3130P variant (also known as c.9389A>C), located in coding exon 10 of the ALMS1 gene, results from an A to C substitution at nucleotide position 9389. The glutamine at codon 3130 is replaced by proline, an amino acid with similar properties. This amino acid position is 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.
Natera, Inc. RCV000668578 SCV002078933 uncertain significance Alstrom syndrome 2021-04-10 no assertion criteria provided clinical testing

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