ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.543del (p.Ala182fs)

dbSNP: rs1273355332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Taipei Veterans General Hospital, Neurological Institute RCV000627025 SCV000747121 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV001860484 SCV002156056 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala182Profs*33) in the HTRA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HTRA1 are known to be pathogenic (PMID: 19387015, 29895533). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cerebral vascular disease (PMID: 29895533). ClinVar contains an entry for this variant (Variation ID: 523574). For these reasons, this variant has been classified as Pathogenic.

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