ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu)

dbSNP: rs1820592071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342513 SCV001536448 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 536 of the KIAA1161 protein (p.Pro536Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of primary basal ganglia calcification (Invitae). 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). 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.
MGZ Medical Genetics Center RCV002290692 SCV002580071 uncertain significance Basal ganglia calcification, idiopathic, 7, autosomal recessive 2022-06-15 criteria provided, single submitter clinical testing

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