ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup)

dbSNP: rs750768529
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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 RCV000686094 SCV000813597 uncertain significance Methylmalonic acidemia due to transcobalamin receptor defect 2022-06-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs750768529, gnomAD 0.02%). This variant, c.69_74dup, results in the insertion of 2 amino acid(s) of the CD320 protein (p.Leu24_Leu25dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with CD320-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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