ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)

gnomAD frequency: 0.00052  dbSNP: rs145533919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471089 SCV000547462 likely benign Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821256 SCV002067982 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV002221540 SCV002498938 uncertain significance not provided 2021-10-11 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
Sema4, Sema4 RCV000471089 SCV002529311 uncertain significance Fanconi anemia 2022-01-04 criteria provided, single submitter curation
Ambry Genetics RCV002525559 SCV003684671 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.2756C>T (p.T919I) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 2756, causing the threonine (T) at amino acid position 919 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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