ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)

gnomAD frequency: 0.00002  dbSNP: rs546774166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428725 SCV000534947 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868547 SCV001009888 benign Hereditary spastic paraplegia 28 2023-08-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848794 SCV002104580 likely benign Hereditary spastic paraplegia 2020-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705580 SCV005212054 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003959998 SCV004773769 likely benign DDHD1-related disorder 2019-03-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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