ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1483A>G (p.Ile495Val)

gnomAD frequency: 0.00034  dbSNP: rs150850005
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192406 SCV000248694 uncertain significance not specified 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000767102 SCV000621131 uncertain significance not provided 2017-09-27 criteria provided, single submitter clinical testing The I495V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in28/34226 (0.08%) alleles from individuals of Latino background, including 1 homozygous individual (Lek et al., 2016). The I495V variant is a conservative amino acid substitution, which is not likely to impact secondary proteinstructure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000694611 SCV000823064 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764671 SCV000895801 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000192406 SCV005039336 uncertain significance not specified 2024-03-13 criteria provided, single submitter clinical testing Variant summary: RELN c.1483A>G (p.Ile495Val) results in a conservative amino acid change in 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 0.00019 in 250440 control chromosomes in the gnomAD database, including 1 homozygote. To our knowledge, no occurrence of c.1483A>G in individuals affected with Epilepsy Familial Temporal Lobe 7 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 212032). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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