Submissions for variant NM_000057.4(BLM):c.1315A>G (p.Met439Val)

gnomAD frequency: 0.00011  dbSNP: rs201231857

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000115281	SCV000149190	uncertain significance	not provided	2024-08-16	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Identified in patients referred for hereditary cancer genetic testing (PMID: 31159747); This variant is associated with the following publications: (PMID: 31159747)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234473	SCV000283112	benign	Bloom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574443	SCV000672900	likely benign	Hereditary cancer-predisposing syndrome	2018-10-30	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.
GeneKor MSA	RCV000574443	SCV000821793	likely benign	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000234473	SCV000838958	uncertain significance	Bloom syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000234473	SCV001275084	uncertain significance	Bloom syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics	RCV000234473	SCV001481339	uncertain significance	Bloom syndrome	2019-01-17	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago	RCV001818261	SCV002069008	likely benign	not specified	2018-04-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574443	SCV002531305	likely benign	Hereditary cancer-predisposing syndrome	2020-12-01	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000115281	SCV004130903	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	BLM: BP4
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000115281	SCV004222429	likely benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing