ClinVar Miner

Submissions for variant NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg)

gnomAD frequency: 0.00002  dbSNP: rs780857882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334650 SCV001527556 uncertain significance Epilepsy, early-onset, vitamin B6-dependent 2018-10-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546693 SCV003485121 uncertain significance not provided 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 14 of the PROSC protein (p.Gly14Arg). This variant is present in population databases (rs780857882, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PROSC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032529). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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