Submissions for variant NM_017837.4(PIGV):c.439C>T (p.Gln147Ter)

gnomAD frequency: 0.00006  dbSNP: rs185641230

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703276	SCV002299630	uncertain significance	not provided	2022-08-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln147*) in the PIGV gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIGV cause disease. 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. ClinVar contains an entry for this variant (Variation ID: 1285152). This variant has not been reported in the literature in individuals affected with PIGV-related conditions. This variant is present in population databases (rs185641230, gnomAD 0.004%).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703276	SCV001932661	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703276	SCV001966495	pathogenic	not provided		no assertion criteria provided	clinical testing