ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.556C>A (p.His186Asn)

gnomAD frequency: 0.00001  dbSNP: rs774817335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848277 SCV002105988 uncertain significance Hereditary spastic paraplegia 2020-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004887680 SCV005533932 uncertain significance not specified 2024-07-30 criteria provided, single submitter clinical testing The c.556C>A (p.H186N) alteration is located in exon 5 (coding exon 5) of the VPS37A gene. This alteration results from a C to A substitution at nucleotide position 556, causing the histidine (H) at amino acid position 186 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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