ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.223C>T (p.Arg75Trp)

dbSNP: rs111780648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519216 SCV001728046 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519216 SCV005268834 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001519216 SCV005878385 benign not provided 2024-07-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356400 SCV001551559 benign not specified no assertion criteria provided clinical testing The SAMD9 p.R75W variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs111780648) and COSMIC (tissue: stomach). The variant was identified in control databases in 5540 of 282718 chromosomes (87 homozygous) at a frequency of 0.01960 (Genome Aggregation Database March 6, 2019, v2.1.1). The p.R75 residue is not highly conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.

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