ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.1343T>A (p.Met448Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002858893 SCV003618673 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1343T>A (p.M448K) alteration is located in exon 5 (coding exon 5) of the GCM2 gene. This alteration results from a T to A substitution at nucleotide position 1343, causing the methionine (M) at amino acid position 448 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036565 SCV005665913 uncertain significance Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2024-02-03 criteria provided, single submitter clinical testing

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