ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)

dbSNP: rs374232523
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057067 SCV001221542 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-07-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197311 SCV001367974 uncertain significance Familial temporal lobe epilepsy 7 2019-04-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
New York Genome Center RCV004799250 SCV001432898 uncertain significance not provided 2022-02-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536113 SCV004119716 uncertain significance RELN-related disorder 2023-10-06 criteria provided, single submitter clinical testing The RELN c.6146C>T variant is predicted to result in the amino acid substitution p.Ala2049Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-103191670-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004031797 SCV004939016 uncertain significance Inborn genetic diseases 2022-01-12 criteria provided, single submitter clinical testing The c.6146C>T (p.A2049V) alteration is located in exon 41 (coding exon 41) of the RELN gene. This alteration results from a C to T substitution at nucleotide position 6146, causing the alanine (A) at amino acid position 2049 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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