ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe)

gnomAD frequency: 0.00001  dbSNP: rs774917613
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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 RCV005095464 SCV002218255 uncertain significance not provided 2022-03-08 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. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 207 of the B4GALT7 protein (p.Ser207Phe). This variant is present in population databases (rs774917613, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with B4GALT7-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics RCV002479555 SCV002793928 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 1 2022-05-27 criteria provided, single submitter clinical testing

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