Submissions for variant NM_002662.5(PLD1):c.1416del (p.Gln472fs)

dbSNP: rs754297172

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001765265	SCV001989783	uncertain significance	not provided	2019-05-21	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001765265	SCV005827721	pathogenic	not provided	2024-05-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln472Hisfs*29) in the PLD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLD1 are known to be pathogenic (PMID: 27799408, 33645542). This variant is present in population databases (rs754297172, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305896). For these reasons, this variant has been classified as Pathogenic.