ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)

gnomAD frequency: 0.00050  dbSNP: rs528790143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513461 SCV001721079 benign Charcot-Marie-Tooth disease type 4 2023-09-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664917 SCV001880730 likely benign not specified 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368542 SCV002662217 likely benign Inborn genetic diseases 2019-11-20 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.

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