ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.3491C>T (p.Thr1164Met)

gnomAD frequency: 0.00001  dbSNP: rs540730568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756696 SCV001986332 uncertain significance not provided 2021-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed on the same allele (in cis) with a second variant in a patient with focal segmental glomerulosclerosis in published literature (Lowik et al., 2008); This variant is associated with the following publications: (PMID: 18443213)
Fulgent Genetics, Fulgent Genetics RCV002477924 SCV002791745 uncertain significance Nephrotic syndrome, type 3 2024-05-06 criteria provided, single submitter clinical testing

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