ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met)

gnomAD frequency: 0.00030  dbSNP: rs145342353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562721 SCV001785531 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001562721 SCV002331658 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573178 SCV003700101 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.6731C>T (p.T2244M) alteration is located in exon 5 (coding exon 5) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 6731, causing the threonine (T) at amino acid position 2244 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038263 SCV005662357 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-15 criteria provided, single submitter clinical testing

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