ClinVar Miner

Submissions for variant NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly)

gnomAD frequency: 0.00003  dbSNP: rs370902866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235142 SCV002509276 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs370902866, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 427 of the KIF1BP protein (p.Ser427Gly). This missense change has been observed in individual(s) with Goldberg-Shprintzen megacolon syndrome (PMID: 32939943). 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. Studies have shown that this missense change alters KIF1BP gene expression (PMID: 32939943). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 691484).
Clinical Genetics, Erasmus University Medical Center RCV000984790 SCV000994835 uncertain significance Goldberg-Shprintzen syndrome 2019-05-16 no assertion criteria provided clinical testing

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