Submissions for variant NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs)

dbSNP: rs745823605

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001528305	SCV002012595	uncertain significance	not provided	2024-03-06	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 33724365)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001528305	SCV002287233	uncertain significance	not provided	2024-01-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln1381Thrfs*77) in the SAMD9L gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 204 amino acid(s) of the SAMD9L protein. This variant is present in population databases (rs745823605, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SAMD9L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1174639). 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.
Human Genetics Bochum, Ruhr University Bochum	RCV003886521	SCV004704542	uncertain significance	Spinocerebellar ataxia 49	2023-04-03	criteria provided, single submitter	clinical testing	ACMG criteria used to clasify this variant: PVS1_STR
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528305	SCV001739825	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528305	SCV001968753	uncertain significance	not provided		no assertion criteria provided	clinical testing