ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn)

gnomAD frequency: 0.00003  dbSNP: rs538380011
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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 RCV001969509 SCV002264610 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 928 of the TMEM67 protein (p.Ser928Asn). This variant is present in population databases (rs538380011, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TMEM67-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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV005042629 SCV005682064 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-04-02 criteria provided, single submitter clinical testing

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