ClinVar Miner

Submissions for variant NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs)

gnomAD frequency: 0.00004  dbSNP: rs587777196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090772 SCV001246488 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001090772 SCV001562968 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 101065). This premature translational stop signal has been observed in individual(s) with spondylometaphyseal dysplasia with cone-rod dystrophy (PMID: 24387991). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs768195758, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser323Argfs*38) in the PCYT1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the PCYT1A protein.
OMIM RCV000087322 SCV000120202 pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 2014-01-02 no assertion criteria provided literature only

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