ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)

gnomAD frequency: 0.00358  dbSNP: rs141644282
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909830 SCV001054655 benign Hereditary spastic paraplegia 54 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847110 SCV002104612 likely benign Hereditary spastic paraplegia 2021-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438578 SCV004164626 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DDHD2: BP4, BS2
Ambry Genetics RCV004028608 SCV004853891 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.226G>T (p.G76C) alteration is located in exon 3 (coding exon 2) of the DDHD2 gene. This alteration results from a G to T substitution at nucleotide position 226, causing the glycine (G) at amino acid position 76 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003438578 SCV005223396 likely benign not provided criteria provided, single submitter not provided

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