ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002644215 SCV003520591 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2023-05-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2200744). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 4 of the LFNG protein (p.Arg4Cys).
Ambry Genetics RCV004636696 SCV005133169 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.10C>T (p.R4C) alteration is located in exon 1 (coding exon 1) of the LFNG gene. This alteration results from a C to T substitution at nucleotide position 10, causing the arginine (R) at amino acid position 4 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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