Submissions for variant NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter)

gnomAD frequency: 0.00002  dbSNP: rs757377110

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001385844	SCV001585837	pathogenic	Pyridoxine-dependent epilepsy	2023-05-12	criteria provided, single submitter	clinical testing	The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072992). This premature translational stop signal has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 20554659). This sequence change creates a premature translational stop signal (p.Arg81*) in the ALDH7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH7A1 are known to be pathogenic (PMID: 16491085, 20554659).
Fulgent Genetics, Fulgent Genetics	RCV001385844	SCV005672276	pathogenic	Pyridoxine-dependent epilepsy	2024-02-21	criteria provided, single submitter	clinical testing
Center of Excellence for Medical Genomics, Chulalongkorn University	RCV001385844	SCV002570042	pathogenic	Pyridoxine-dependent epilepsy	2002-09-08	no assertion criteria provided	research