ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)

gnomAD frequency: 0.00003  dbSNP: rs371524359
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667673 SCV000792159 uncertain significance Alstrom syndrome 2017-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001569673 SCV001793799 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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
Invitae RCV000667673 SCV002205468 uncertain significance Alstrom syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 713 of the ALMS1 protein (p.Leu713Val). 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: 552419). 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.
Ambry Genetics RCV002424571 SCV002731086 uncertain significance Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing The p.L713V variant (also known as c.2137C>G), located in coding exon 8 of the ALMS1 gene, results from a C to G substitution at nucleotide position 2137. The leucine at codon 713 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly 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. RCV000667673 SCV002080445 uncertain significance Alstrom syndrome 2021-08-13 no assertion criteria provided clinical testing

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