ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.319G>A (p.Gly107Arg)

gnomAD frequency: 0.00001  dbSNP: rs770087033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990911 SCV004807992 uncertain significance Basal ganglia calcification, idiopathic, 7, autosomal recessive 2024-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654380 SCV005146155 uncertain significance not specified 2024-06-22 criteria provided, single submitter clinical testing The c.319G>A (p.G107R) alteration is located in exon 2 (coding exon 1) of the KIAA1161 gene. This alteration results from a G to A substitution at nucleotide position 319, causing the glycine (G) at amino acid position 107 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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