Submissions for variant NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002856793	SCV003221024	uncertain significance	Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3	2022-07-15	criteria provided, single submitter	clinical testing	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. This variant disrupts the p.Val103 amino acid residue in PSEN1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30822634; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of PSEN1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.308_310del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the PSEN1 protein (p.Val103_Ser104delinsGly).