ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1132G>A (p.Val378Ile)

gnomAD frequency: 0.00004  dbSNP: rs749738523
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001293437 SCV000219091 benign Renal cell carcinoma 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009954 SCV001170088 likely benign Hereditary cancer-predisposing syndrome 2021-10-12 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 RCV000168398 SCV001327072 likely benign Papillary renal cell carcinoma type 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001562203 SCV001784934 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Sema4, Sema4 RCV001009954 SCV002532096 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-04 criteria provided, single submitter curation
Baylor Genetics RCV003468833 SCV004192479 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562203 SCV005433848 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing MET: BP4

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