ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1985+1G>A (rs1553773271)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558855 SCV000636154 pathogenic Nephronophthisis 2018-09-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the NPHP3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NPHP3-related disease. However, this variant occurs with a pathogenic variant (c.2694-2_2694-1delAG) in NPHP3 in an individual with clinical features of nephronophthisis (Invitae). Family studies indicate that these two variants are on opposite chromosomes (in trans), which suggests that the c.1985+1G>A substitution may contribute to disease. For these reasons, this variant has been classified as Pathogenic.

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