ClinVar Miner

Submissions for variant NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)

gnomAD frequency: 0.00027  dbSNP: rs148682566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734270 SCV000862395 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027080 SCV003683009 uncertain significance not specified 2022-08-02 criteria provided, single submitter clinical testing The c.1009G>A (p.D337N) alteration is located in exon 5 (coding exon 5) of the RNF135 gene. This alteration results from a G to A substitution at nucleotide position 1009, causing the aspartic acid (D) at amino acid position 337 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000734270 SCV001799138 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000734270 SCV001968245 likely benign not provided no assertion criteria provided clinical testing

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