ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)

gnomAD frequency: 0.01383  dbSNP: rs73668354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244821 SCV000311482 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319659 SCV000478813 likely benign Congenital generalized lipodystrophy 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). 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.
Invitae RCV000967144 SCV001114515 benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000319659 SCV002812948 likely benign Congenital generalized lipodystrophy type 1 2022-01-25 criteria provided, single submitter clinical testing

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