ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.742T>A (p.Leu248Met) (rs141195622)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710078 SCV000251153 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing Observed in in individuals with ataxia in published literature; however, a second APTX variant was not detected and L248M was identified in unaffected family members (Castellotti et al., 2011); Published functional studies indicate that although this variant has a stabilizing effect it impairs active site assembly (Tumbale et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25637650, 21465257, 29934293, 26285866)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710078 SCV000333620 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710078 SCV000612396 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710078 SCV001155625 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165622 SCV001327833 uncertain significance Ataxia-oculomotor apraxia type 1 2017-05-16 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001165622 SCV001530666 uncertain significance Ataxia-oculomotor apraxia type 1 2018-07-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. These variants have been previously reported but pathogenicity of these changes is unclear [PMID 26285866]

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