ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)

gnomAD frequency: 0.00001  dbSNP: rs568294049
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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 RCV000867721 SCV001008979 benign Hereditary spastic paraplegia 28 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001545409 SCV001764735 likely benign not provided 2019-05-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847074 SCV002104578 likely benign Hereditary spastic paraplegia 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169144 SCV003864325 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.181G>C (p.G61R) alteration is located in exon 1 (coding exon 1) of the DDHD1 gene. This alteration results from a G to C substitution at nucleotide position 181, causing the glycine (G) at amino acid position 61 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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