ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) (rs143509747)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423155 SCV000533684 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATP6V0A2 gene. The R141L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R141L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and 2/3 in silico algorithms predict this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the R141L variant.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729905 SCV000857603 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763802 SCV000894716 uncertain significance Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001113218 SCV001270974 uncertain significance Cutis laxa with osteodystrophy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000729905 SCV001748397 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000729905 SCV001744858 likely benign not provided no assertion criteria provided clinical testing

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