ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)

dbSNP: rs794727430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176698 SCV000228395 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000475008 SCV000552112 uncertain significance Nephronophthisis 2022-06-11 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with NPHP3-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1270 of the NPHP3 protein (p.Leu1270Pro). ClinVar contains an entry for this variant (Variation ID: 195995). 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. 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 disruptive.
Fulgent Genetics, Fulgent Genetics RCV002485148 SCV002781191 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-07-21 criteria provided, single submitter clinical testing

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