ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002814364 SCV003035450 uncertain significance Hyperparathyroidism 4 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002776558 SCV003589349 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The c.523A>T (p.I175F) alteration is located in exon 4 (coding exon 4) of the GCM2 gene. This alteration results from a A to T substitution at nucleotide position 523, causing the isoleucine (I) at amino acid position 175 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005044994 SCV005673993 uncertain significance Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2024-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963362 SCV004782114 uncertain significance GCM2-related disorder 2024-02-02 no assertion criteria provided clinical testing The GCM2 c.523A>T variant is predicted to result in the amino acid substitution p.Ile175Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) 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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