ClinVar Miner

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

gnomAD frequency: 0.00031  dbSNP: rs143972828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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