ClinVar Miner

Submissions for variant NM_022064.5(RNF123):c.3491C>T (p.Pro1164Leu)

gnomAD frequency: 0.00009  dbSNP: rs61743872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004030104 SCV004063490 uncertain significance not specified 2023-07-31 criteria provided, single submitter clinical testing The c.3491C>T (p.P1164L) alteration is located in exon 35 (coding exon 34) of the RNF123 gene. This alteration results from a C to T substitution at nucleotide position 3491, causing the proline (P) at amino acid position 1164 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genetics and Genomics Program, Sidra Medicine RCV001199398 SCV001134949 uncertain significance Hypertrophic cardiomyopathy no assertion criteria provided research

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