ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) (rs777359703)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665243 SCV000789332 uncertain significance Propionyl-CoA carboxylase deficiency 2017-01-25 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000665243 SCV000840318 not provided Propionyl-CoA carboxylase deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000665243 SCV000948169 uncertain significance Propionyl-CoA carboxylase deficiency 2018-10-19 criteria provided, single submitter clinical testing This variant, c.11_28dup, results in the insertion of 6 amino acid(s) to the PCCB protein (p.Ala4_Ala9dup), but otherwise preserves the integrity of the reading frame. While this variant is present in population databases (rs777359703), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PCCB-related disease. ClinVar contains an entry for this variant (Variation ID: 550487). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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