ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)

gnomAD frequency: 0.00003  dbSNP: rs761666704
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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 RCV001994227 SCV002270350 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 86 of the PDZD7 protein (p.Ser86Leu). This variant is present in population databases (rs761666704, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PDZD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1481635). 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: "Not Available"; Align-GVGD: "Class C0"). 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 RCV002497945 SCV002812659 uncertain significance Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2021-07-28 criteria provided, single submitter clinical testing

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