ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1708C>G (p.His570Asp)

gnomAD frequency: 0.00013  dbSNP: rs374546580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386325 SCV000338575 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV000554886 SCV000656263 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519183 SCV003741538 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.1708C>G (p.H570D) alteration is located in exon 14 (coding exon 14) of the RELN gene. This alteration results from a C to G substitution at nucleotide position 1708, causing the histidine (H) at amino acid position 570 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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