ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2335C>T (p.Arg779Trp)

gnomAD frequency: 0.00008  dbSNP: rs370643191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285568 SCV000475970 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593743 SCV000706094 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000285568 SCV001404437 uncertain significance Nephronophthisis 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 779 of the INVS protein (p.Arg779Trp). This variant is present in population databases (rs370643191, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with INVS-related conditions. ClinVar contains an entry for this variant (Variation ID: 364230). 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: "Benign"; 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 RCV002480251 SCV002779028 uncertain significance Infantile nephronophthisis 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984857 SCV005601079 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.2335C>T (p.R779W) alteration is located in exon 14 (coding exon 13) of the INVS gene. This alteration results from a C to T substitution at nucleotide position 2335, causing the arginine (R) at amino acid position 779 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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