ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)

gnomAD frequency: 0.00014  dbSNP: rs754321329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034280 SCV001197618 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001034280 SCV001477719 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing The CDHR1 c.1751C>T; p.Thr584Met variant (rs754321329), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is described in the general population with an allele frequency of 0.03% (92/282866 alleles including 1 homozygotes) in the Genome Aggregation Database. The amino acid at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002552051 SCV003687941 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1751C>T (p.T584M) alteration is located in exon 15 (coding exon 15) of the CDHR1 gene. This alteration results from a C to T substitution at nucleotide position 1751, causing the threonine (T) at amino acid position 584 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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