ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.944dup (p.Ala316fs)

dbSNP: rs1569541255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003555999 SCV004299570 pathogenic not provided 2023-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala316Cysfs*4) in the FGD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FGD1 are known to be pathogenic (PMID: 21739585, 23211637, 25046119, 26029706). This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.945insC. This premature translational stop signal has been observed in individual(s) with Aarskog-Scott syndrome (PMID: 17152066). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 10833).
OMIM RCV000011580 SCV000031812 pathogenic Aarskog syndrome 2007-01-01 no assertion criteria provided literature only

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