Submissions for variant NM_005045.4(RELN):c.2944A>C (p.Ile982Leu)

gnomAD frequency: 0.00031  dbSNP: rs143972828

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653029	SCV000774903	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003155261	SCV003844271	uncertain significance	not specified	2023-02-27	criteria provided, single submitter	clinical testing	Variant summary: RELN c.2944A>C (p.Ile982Leu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.8e-05 in 251178 control chromosomes. To our knowledge, no occurrence of c.2944A>C in individuals affected with Epilepsy Familial Temporal Lobe 7 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign. Based on the evidence outlined above, the variant was classified as uncertain significance.