ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)

gnomAD frequency: 0.00009  dbSNP: rs758919422
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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 RCV000638547 SCV000760071 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-10-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849013 SCV002104789 uncertain significance Hereditary spastic paraplegia 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528904 SCV003710834 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1942G>A (p.D648N) alteration is located in exon 16 (coding exon 15) of the WASHC5 gene. This alteration results from a G to A substitution at nucleotide position 1942, causing the aspartic acid (D) at amino acid position 648 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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