ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)

dbSNP: rs782074040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171596 SCV001334392 pathogenic not provided 2019-06-26 criteria provided, single submitter clinical testing
Invitae RCV001171596 SCV002239416 pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg691*) in the CACNA1F gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1F are known to be pathogenic (PMID: 9662399, 11281458, 17525176, 22194652, 24124559, 26992781). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 15761389, 23714322). This variant is also known as c.2038C>T (R680X). ClinVar contains an entry for this variant (Variation ID: 916094).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252322 SCV002523333 likely pathogenic See cases 2019-10-29 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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