ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe)

dbSNP: rs1031152969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332936 SCV001525380 uncertain significance Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2019-10-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004960796 SCV005487287 uncertain significance Inborn genetic diseases 2024-10-30 criteria provided, single submitter clinical testing The c.2519C>T (p.S840F) alteration is located in exon 19 (coding exon 17) of the RERE gene. This alteration results from a C to T substitution at nucleotide position 2519, causing the serine (S) at amino acid position 840 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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