ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00051  dbSNP: rs147110861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247728 SCV001421168 likely benign Spondylocostal dysostosis 3, autosomal recessive 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568681 SCV003686314 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1021C>T (p.R341W) alteration is located in exon 7 (coding exon 7) of the LFNG gene. This alteration results from a C to T substitution at nucleotide position 1021, causing the arginine (R) at amino acid position 341 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796413 SCV002036221 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796413 SCV002037970 likely benign not provided no assertion criteria provided clinical testing

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