ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)

gnomAD frequency: 0.00002  dbSNP: rs996036496
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318232 SCV001508925 uncertain significance Alstrom syndrome 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2672 of the ALMS1 protein (p.Pro2672Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1018872). 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 RCV002418961 SCV002679765 uncertain significance Cardiovascular phenotype 2023-04-13 criteria provided, single submitter clinical testing The p.P2672L variant (also known as c.8015C>T), located in coding exon 10 of the ALMS1 gene, results from a C to T substitution at nucleotide position 8015. The proline at codon 2672 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV001318232 SCV002797057 uncertain significance Alstrom syndrome 2021-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387993 SCV004099719 uncertain significance not specified 2023-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001318232 SCV002082891 uncertain significance Alstrom syndrome 2021-03-15 no assertion criteria provided clinical testing

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