ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln)

gnomAD frequency: 0.00002  dbSNP: rs747436946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001356980 SCV003463146 likely benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356980 SCV001552289 uncertain significance not provided no assertion criteria provided clinical testing The NEXMIF p.Arg628Gln variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in dbSNP (ID: rs747436946). The variant was identified in control databases in 4 of 180778 chromosomes (3 hemizygous) at a frequency of 0.000022 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: South Asian in 4 of 18751 chromosomes (freq: 0.000213), while the variant was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), and Other populations. The p.Arg628 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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