ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg)

gnomAD frequency: 0.00011  dbSNP: rs200713915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110213 SCV001267621 uncertain significance Fraser syndrome 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004032152 SCV004880774 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.92A>G (p.K31R) alteration is located in exon 2 (coding exon 2) of the GRIP1 gene. This alteration results from a A to G substitution at nucleotide position 92, causing the lysine (K) at amino acid position 31 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001110213 SCV005629138 uncertain significance Fraser syndrome 3 2024-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093511 SCV005821545 uncertain significance not provided 2024-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 31 of the GRIP1 protein (p.Lys31Arg). This variant is present in population databases (rs200713915, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 881294). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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