ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)

gnomAD frequency: 0.00004  dbSNP: rs199683521
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664500 SCV000788470 uncertain significance Alstrom syndrome 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV000664500 SCV001415141 uncertain significance Alstrom syndrome 2022-08-19 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 3966 of the ALMS1 protein (p.Val3966Leu). This variant is present in population databases (rs199683521, gnomAD 0.01%). 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: 549920). 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 RCV002334231 SCV002640891 uncertain significance Cardiovascular phenotype 2022-11-22 criteria provided, single submitter clinical testing The p.V3966L variant (also known as c.11896G>T), located in coding exon 19 of the ALMS1 gene, results from a G to T substitution at nucleotide position 11896. The valine at codon 3966 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330875 SCV004039453 uncertain significance not specified 2023-08-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664500 SCV002079042 uncertain significance Alstrom syndrome 2021-04-19 no assertion criteria provided clinical testing

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