ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)

gnomAD frequency: 0.00003  dbSNP: rs748930384
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383846 SCV001583152 pathogenic Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1365Profs*26) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant is present in population databases (rs748930384, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with ovarian and/or breast cancer (PMID: 31300551). ClinVar contains an entry for this variant (Variation ID: 929605). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497677 SCV002813967 likely pathogenic Fanconi anemia complementation group P 2022-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001194852 SCV003805908 likely pathogenic not provided 2022-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Identified in individuals with a personal history of breast cancer, one of which also had a personal history of ovarian cancer and also harbored a pathogenic PALB2 variant (Fostira 2020); This variant is associated with the following publications: (PMID: 31300551, 34308104)
CeGaT Center for Human Genetics Tuebingen RCV001194852 SCV004144897 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing SLX4: PVS1
Leiden Open Variation Database RCV001194852 SCV001364685 pathogenic not provided 2019-12-23 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Florentia Fostira.

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