Submissions for variant NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)

gnomAD frequency: 0.00032  dbSNP: rs147587391

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001325704	SCV001516707	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820016	SCV002064941	likely benign	not specified	2018-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001325704	SCV002578645	uncertain significance	not provided	2023-07-28	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28545555)
Ambry Genetics	RCV002546138	SCV003758158	likely benign	Inborn genetic diseases	2021-10-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001325704	SCV005876230	uncertain significance	not provided	2024-11-27	criteria provided, single submitter	clinical testing	The SAMD9 c.2374G>A; p.Val792Ile variant (rs147587391), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1025396). This variant is found in the general population with an overall allele frequency of 0.05% (138/282682 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is neutral (REVEL: 0.148). While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences	RCV004548168	SCV004762823	likely benign	SAMD9-related disorder	2020-04-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).