ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)

gnomAD frequency: 0.00009  dbSNP: rs549757247
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175083 SCV000226511 uncertain significance not provided 2014-08-21 criteria provided, single submitter clinical testing
Invitae RCV000634776 SCV000756119 uncertain significance Alstrom syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3674 of the ALMS1 protein (p.Leu3674Ile). This variant is present in population databases (rs549757247, gnomAD 0.04%). 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: 194660). 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.
Counsyl RCV000634776 SCV000790595 uncertain significance Alstrom syndrome 2017-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000175083 SCV002526590 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV002426835 SCV002742088 uncertain significance Cardiovascular phenotype 2022-10-03 criteria provided, single submitter clinical testing The p.L3674I variant (also known as c.11020C>A), located in coding exon 16 of the ALMS1 gene, results from a C to A substitution at nucleotide position 11020. The leucine at codon 3674 is replaced by isoleucine, 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.
Natera, Inc. RCV000634776 SCV001453048 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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