ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)

gnomAD frequency: 0.00036  dbSNP: rs751621364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654108 SCV000775998 likely benign Charcot-Marie-Tooth disease type 4 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424544 SCV002740666 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.2552G>A (p.R851Q) alteration is located in exon 11 (coding exon 11) of the SH3TC2 gene. This alteration results from a G to A substitution at nucleotide position 2552, causing the arginine (R) at amino acid position 851 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genesis Genome Database RCV000654108 SCV000999725 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004732985 SCV005367557 uncertain significance SH3TC2-related disorder 2024-08-14 no assertion criteria provided clinical testing The SH3TC2 c.2552G>A variant is predicted to result in the amino acid substitution p.Arg851Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.048% of alleles in individuals of Latino descent in gnomAD. 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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