ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.1175G>C (p.Gly392Ala)

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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 RCV003855690 SCV004655580 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 392 of the FAM111A protein (p.Gly392Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAM111A-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FAM111A protein function with a positive predictive value of 80%. 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 RCV004621928 SCV005119796 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.1175G>C (p.G392A) alteration is located in exon 5 (coding exon 2) of the FAM111A gene. This alteration results from a G to C substitution at nucleotide position 1175, causing the glycine (G) at amino acid position 392 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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