ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002732252 SCV003573380 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.304G>A (p.G102R) alteration is located in exon 2 (coding exon 2) of the TOR1A gene. This alteration results from a G to A substitution at nucleotide position 304, causing the glycine (G) at amino acid position 102 to be replaced by an arginine (R). Based on data from gnomAD, the A allele has an overall frequency of <0.01% (3/251494) total alleles studied. The highest observed frequency was 0.01% (2/30616) of South Asian alleles. This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003294605 SCV004009670 uncertain significance Arthrogryposis multiplex congenita 5 criteria provided, single submitter research

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