ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)

dbSNP: rs587776891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513208 SCV003442363 pathogenic Spastic paraplegia 2022-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr170*) in the FA2H gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FA2H are known to be pathogenic (PMID: 20853438, 25496456, 25732363, 26344562). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30873). This variant is also known as c.509_510delAC. This premature translational stop signal has been observed in individual(s) with clinical features of FA2H-related conditions (PMID: 20853438, 23745665, 31135052). This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004700275 SCV005201362 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23745665, 20853438, 31135052)
Mayo Clinic Laboratories, Mayo Clinic RCV004700275 SCV005414355 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing PP1, PM2, PM3, PVS1
OMIM RCV000023858 SCV000045149 pathogenic Hereditary spastic paraplegia 35 2014-04-01 no assertion criteria provided literature only

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