Submissions for variant NM_006017.3(PROM1):c.1276dup (p.Thr426fs)

gnomAD frequency: 0.00008  dbSNP: rs747800874

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001063591	SCV001228445	pathogenic	not provided	2023-01-12	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (Invitae). This variant is present in population databases (rs747800874, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Thr426Asnfs*6) in the PROM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROM1 are known to be pathogenic (PMID: 17605048, 19718270, 24154662, 25474345). ClinVar contains an entry for this variant (Variation ID: 857834). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001063591	SCV004040256	uncertain significance	not provided	2023-03-22	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 a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31964843)