ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3164A>C (p.Gln1055Pro)

dbSNP: rs1455749393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002781768 SCV003570028 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.3164A>C (p.Q1055P) alteration is located in exon 24 (coding exon 24) of the RELN gene. This alteration results from a A to C substitution at nucleotide position 3164, causing the glutamine (Q) at amino acid position 1055 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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