ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)

gnomAD frequency: 0.00107  dbSNP: rs144790966
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842291 SCV000984298 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081995 SCV001002612 likely benign Spastic paraplegia 2024-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000842291 SCV001149252 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536149 SCV003686887 likely benign Inborn genetic diseases 2021-10-06 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.
PreventionGenetics, part of Exact Sciences RCV003965628 SCV004777570 likely benign ZFYVE26-related disorder 2023-06-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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