Submissions for variant NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)

dbSNP: rs796052023

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186093	SCV000239117	likely pathogenic	not provided	2013-11-19	criteria provided, single submitter	clinical testing	The c.975_977delTGA deletion causes the loss of a single Aspartic Acid at amino acid position 325, denoted p.Asp325del. The Aspartic Acid at this position is highly conserved; however, what effect the loss of a single amino acid at this position has on the function of the PCCB enzyme is not known. Therefore, c.975_977delTGA is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The variant is found in PCCB panel(s).
Invitae	RCV001852418	SCV002181963	uncertain significance	Propionic acidemia	2022-07-06	criteria provided, single submitter	clinical testing	This variant, c.975_977del, results in the deletion of 1 amino acid(s) of the PCCB protein (p.Asp325del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 203887). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.