Submissions for variant NM_000222.3(KIT):c.123A>T (p.Pro41=)

gnomAD frequency: 0.00182  dbSNP: rs72549300

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203968	SCV000262320	benign	Gastrointestinal stromal tumor	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001010502	SCV001170710	likely benign	Hereditary cancer-predisposing syndrome	2018-10-02	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.
Illumina Laboratory Services, Illumina	RCV000203968	SCV001307852	benign	Gastrointestinal stromal tumor	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001147079	SCV001307853	benign	Mastocytosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001147967	SCV001308826	likely benign	Piebaldism	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV001010502	SCV002536381	likely benign	Hereditary cancer-predisposing syndrome	2021-07-21	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000203968	SCV004015794	benign	Gastrointestinal stromal tumor	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884407	SCV004699896	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KIT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003884407	SCV005257364	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003884407	SCV005876381	likely benign	not provided	2024-03-20	criteria provided, single submitter	clinical testing