ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)

gnomAD frequency: 0.00009  dbSNP: rs190548695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338910 SCV000345905 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764464 SCV000895529 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000799611 SCV000939282 likely benign Nephronophthisis 2023-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543152 SCV004790364 uncertain significance NPHP3-related disorder 2024-01-19 criteria provided, single submitter clinical testing The NPHP3 c.3896G>A variant is predicted to result in the amino acid substitution p.Gly1299Asp. This variant has been reported in the homozygous state in an individual with congenital heart defects (Jin et al. 2017. PubMed ID: 28991257). This variant is reported in 0.13% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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