ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)

gnomAD frequency: 0.00002  dbSNP: rs558285072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665612 SCV000789762 likely pathogenic Hereditary spastic paraplegia 15 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000823096 SCV000963940 pathogenic Spastic paraplegia 2022-12-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550774). This premature translational stop signal has been observed in individuals with spastic paraplegia (PMID: 27544497; Invitae). This variant is present in population databases (rs558285072, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg1602*) in the ZFYVE26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZFYVE26 are known to be pathogenic (PMID: 18394578, 19805727).
DASA RCV001730704 SCV001980675 pathogenic Atypical behavior; Intellectual disability; Spastic paraplegia 2021-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal c.4804C>T;p.(Arg1602*) in the ZFYVE26 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs558285072, gnomAD 0.002%; ABraOM no frequency - abraom.ib.usp.br). This variant has been observed in individuals affected with spastic paraplegia (PMID: 27544497, Invitae). ClinVar contains an entry for this variant (Variation ID: 550774). Loss-of-function variants in ZFYVE26 are known to be pathogenic (PMID: 18394578, 19805727). For these reasons, this variant has been classified as Pathogenic.

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