Submissions for variant NM_018699.4(PRDM5):c.1132del (p.Cys378fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003671860	SCV004384727	pathogenic	not provided	2023-05-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys378Alafs*47) in the PRDM5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRDM5 are known to be pathogenic (PMID: 21664999, 26395458). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PRDM5-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV003966549	SCV004794303	likely pathogenic	PRDM5-related disorder	2023-11-16	no assertion criteria provided	clinical testing	The PRDM5 c.1132delT variant is predicted to result in a frameshift and premature protein termination (p.Cys378Alafs*47). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-121719477-CA-C). Frameshift variants in PRDM5 are expected to be pathogenic. This variant is interpreted as likely pathogenic.