ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)

dbSNP: rs775762093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853529 SCV000996487 likely pathogenic Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-06-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3-Strong.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538876 SCV003460780 pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 692182). This variant is also known as MYORG c.348_349insCTGGCCTTCCGC (p.116_117insLAFR). This variant has been observed in individual(s) with KIAA1161-related conditions (PMID: 30589467, 31009047). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs775762093, gnomAD 0.05%). This variant, c.337_348dup, results in the insertion of 4 amino acid(s) of the KIAA1161 protein (p.Leu113_Arg116dup), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic.
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital RCV000853529 SCV004011721 pathogenic Basal ganglia calcification, idiopathic, 7, autosomal recessive no assertion criteria provided research

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