ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu)

gnomAD frequency: 0.00009  dbSNP: rs372193709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449492 SCV000537836 uncertain significance Peripheral neuropathy 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042164 SCV001205831 uncertain significance Hereditary spastic paraplegia 39 2022-10-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PNPLA6 protein function. ClinVar contains an entry for this variant (Variation ID: 397619). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. This variant is present in population databases (rs372193709, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 363 of the PNPLA6 protein (p.Ser363Leu).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848798 SCV002105483 uncertain significance Hereditary spastic paraplegia 2017-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955491 SCV005474541 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.1088C>T (p.S363L) alteration is located in exon 13 (coding exon 11) of the PNPLA6 gene. This alteration results from a C to T substitution at nucleotide position 1088, causing the serine (S) at amino acid position 363 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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