Submissions for variant NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002770617	SCV003023513	uncertain significance	Spondylocostal dysostosis 3, autosomal recessive	2024-01-24	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 53 of the LFNG protein (p.Pro53Ala). This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1986583). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics	RCV002770618	SCV003734355	uncertain significance	Inborn genetic diseases	2021-09-27	criteria provided, single submitter	clinical testing	The c.157C>G (p.P53A) alteration is located in exon 1 (coding exon 1) of the LFNG gene. This alteration results from a C to G substitution at nucleotide position 157, causing the proline (P) at amino acid position 53 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.