Submissions for variant NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)

dbSNP: rs796052214

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000694548	SCV000822999	uncertain significance	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset	2023-12-30	criteria provided, single submitter	clinical testing	This variant, c.714_716del, results in the deletion of 1 amino acid(s) of the SQSTM1 protein (p.Lys238del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs767056938, gnomAD 0.003%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis and frontodemporal dementia (PMID: 22084127, 25114083). ClinVar contains an entry for this variant (Variation ID: 202213). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000184067	SCV001440077	uncertain significance	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	2019-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000184067	SCV000236601	pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	2015-01-01	no assertion criteria provided	literature only