ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln)

gnomAD frequency: 0.00005  dbSNP: rs374748539
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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 RCV001220156 SCV001392132 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 543 of the FAM161A protein (p.Arg543Gln). This variant is present in population databases (rs374748539, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 948824). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Dept Of Ophthalmology, Nagoya University RCV003887916 SCV004705380 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV005340683 SCV006006692 uncertain significance Inborn genetic diseases 2024-12-16 criteria provided, single submitter clinical testing The c.1628G>A (p.R543Q) alteration is located in exon 4 (coding exon 4) of the FAM161A gene. This alteration results from a G to A substitution at nucleotide position 1628, causing the arginine (R) at amino acid position 543 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828751 SCV002076597 uncertain significance Retinitis pigmentosa 28 2020-01-24 no assertion criteria provided clinical testing

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