ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.115G>C (p.Ala39Pro)

dbSNP: rs1844983837
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232957 SCV001405533 uncertain significance Myofibrillar myopathy 4 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 39 of the LDB3 protein (p.Ala39Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LDB3-related conditions.

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