ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2822A>G (p.His941Arg)

gnomAD frequency: 0.00001  dbSNP: rs886042226
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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) RCV000377481 SCV000332687 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336187 SCV001529517 uncertain significance Infantile nephronophthisis 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001855089 SCV002261031 uncertain significance Nephronophthisis 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 941 of the INVS protein (p.His941Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). 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: 281735). 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 tolerated. 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.

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