ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2313G>T (p.Gln771His)

gnomAD frequency: 0.00001  dbSNP: rs777581847
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531495 SCV000656270 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001783059 SCV002025597 uncertain significance Familial temporal lobe epilepsy 7 2020-04-26 criteria provided, single submitter clinical testing The inherited p.Gln771His variant identified in the RELN gene has not been reported in affected individuals in the literature. The variant has been reported in ClinVar (Variation ID: 475951). The variant has 0.0000837 allele frequency inthe gnomAD database across all populations (21 out of 250,910 heterozygous alleles) and 0.0006077 allele frequency in Latino subpopulation represented in gnomAD (21 out of 34,556 heterozygous alleles). The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. However, functional studies are needed to evaluate the potential pathogenicity of this variant. Based on the available evidence, the p.Gln771His variant in the RELN gene is assessed as a variant of uncertain significance.
Ambry Genetics RCV004024352 SCV004938994 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.2313G>T (p.Q771H) alteration is located in exon 19 (coding exon 19) of the RELN gene. This alteration results from a G to T substitution at nucleotide position 2313, causing the glutamine (Q) at amino acid position 771 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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