ClinVar Miner

Submissions for variant NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter)

gnomAD frequency: 0.00001  dbSNP: rs587777192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000087317 SCV000266530 pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000087317 SCV002796221 pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 2022-02-07 criteria provided, single submitter clinical testing
Invitae RCV002514539 SCV003525400 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg283*) in the PCYT1A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PCYT1A cause disease. This variant is present in population databases (rs587777192, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinal dystrophy and/or spondylometaphyseal dysplasia with cone-rod dystrophy (PMID: 24387990, 28272537). ClinVar contains an entry for this variant (Variation ID: 101060). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000087317 SCV000120197 pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 2014-01-02 no assertion criteria provided literature only

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