Submissions for variant NM_001291303.3(FAT4):c.4726A>C (p.Ile1576Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003388404	SCV004099788	uncertain significance	not specified	2023-09-12	criteria provided, single submitter	clinical testing	Variant summary: FAT4 c.4726A>C (p.Ile1576Leu) results in a conservative amino acid change located in the Cadherin-like (IPR002126) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 249532 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4726A>C in individuals affected with FAT4-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV005030006	SCV005662283	uncertain significance	Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2	2024-03-28	criteria provided, single submitter	clinical testing