ClinVar Miner

Submissions for variant NM_000229.2(LCAT):c.340G>A (p.Val114Met)

dbSNP: rs35673026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001117249 SCV001275421 benign LCAT deficiency 2017-04-28 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001469271 SCV001673349 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451327 SCV002614369 likely benign Cardiovascular phenotype 2021-05-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002480488 SCV002795149 likely benign Fish-eye disease; Norum disease 2022-04-07 criteria provided, single submitter clinical testing

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