ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile)

dbSNP: rs1369297768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349439 SCV001543784 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 44 of the LFNG protein (p.Ser44Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with LFNG-related conditions. 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.

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