ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)

dbSNP: rs769099047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853525 SCV000996483 uncertain significance Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-06-13 criteria provided, single submitter curation This variant is interpreted as a variant of Uncertain significance for Basal ganglia calcification, idiopathic, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV003117619 SCV003786501 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 692178). This missense change has been observed in individual(s) with KIAA1161-related conditions (PMID: 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 not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 476 of the KIAA1161 protein (p.Thr476Asn).

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