ClinVar Miner

Submissions for variant NM_001312673.2(PCYT1A):c.1103A>C (p.Ter368Ser)

gnomAD frequency: 0.00001  dbSNP: rs1724251301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001962546 SCV002208780 uncertain significance not provided 2022-08-31 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1434824). This variant has not been reported in the literature in individuals affected with PCYT1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the PCYT1A mRNA. It is expected to extend the length of the PCYT1A protein by 21 additional amino acid residues.
Fulgent Genetics, Fulgent Genetics RCV002484660 SCV002783456 uncertain significance Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 2022-03-28 criteria provided, single submitter clinical testing

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